Transcript #00016361

Transcript name glucosidase, alpha; acid, transcript variant 1
Gene name GAA (glucosidase alpha, acid)
Chromosome 17
Transcript - NCBI ID NM_000152.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000143.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

105 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.193C>A r.(?) p.(Pro65Thr)
./. - c.271G>A r.(?) p.(Asp91Asn)
./. - c.324T>C r.(=) p.(=)
./. - c.447G>A r.(=) p.(=)
./. - c.547-145G>A r.(=) p.(=)
./. - c.547-67C>G r.(=) p.(=)
./. - c.547-39T>G r.(=) p.(=)
./. - c.547-4C>G r.spl? p.?
./. - c.569G>T r.(?) p.(Arg190Leu)
./. - c.596A>G r.(?) p.(His199Arg)
./. - c.642C>T r.(=) p.(=)
./. - c.668G>A r.(?) p.(Arg223His)
./. - c.676C>G r.(?) p.(Leu226Val)
./. - c.692+17G>C r.(=) p.(=)
./. - c.692+38C>T r.(=) p.(=)
./. - c.693-78C>T r.(=) p.(=)
./. - c.693-49C>T r.(=) p.(=)
./. - c.693-4G>T r.spl? p.?
./. - c.726G>A r.(=) p.(=)
./. - c.852G>A r.(=) p.(=)
./. - c.858+6_858+12del r.(=) p.(=)
./. - c.858+7_858+8insAGCGGGC r.(=) p.(=)
./. - c.858+21C>T r.(=) p.(=)
./. - c.858+30T>C r.(=) p.(=)
./. - c.915G>A r.(=) p.(=)
./. - c.921A>T r.(=) p.(=)
./. - c.955+12G>A r.(=) p.(=)
./. - c.955+43G>C r.(=) p.(=)
./. - c.956-107G>A r.(=) p.(=)
./. - c.956-84C>T r.(=) p.(=)
./. - c.976C>T r.(?) p.(Pro326Ser)
./. - c.1075+13C>T r.(=) p.(=)
./. - c.1171A>G r.(?) p.(Met391Val)
./. - c.1194+18_1194+19insA r.(=) p.(=)
./. - c.1194+45G>A r.(=) p.(=)
./. - c.1195-40T>G r.(=) p.(=)
./. - c.1198G>A r.(?) p.(Val400Ile)
./. - c.1203G>A r.(=) p.(=)
./. - c.1327-179G>A r.(=) p.(=)
./. - c.1327-118A>G r.(=) p.(=)
./. - c.1327-106C>T r.(=) p.(=)
./. - c.1327-28T>C r.(=) p.(=)
./. - c.1327-18A>G r.(=) p.(=)
./. - c.1352C>G r.(?) p.(Pro451Arg)
./. - c.1374C>T r.(=) p.(=)
./. - c.1438-19G>C r.(=) p.(=)
./. - c.1551+42G>A r.(=) p.(=)
./. - c.1551+49C>A r.(=) p.(=)
./. - c.1552-13G>A r.(=) p.(=)
./. - c.1581G>A r.(=) p.(=)
./. - c.1636+43G>T r.(=) p.(=)
./. - c.1636+117C>T r.(=) p.(=)
./. - c.1636+117del r.(=) p.(=)
./. - c.1636+118G>A r.(=) p.(=)
./. - c.1636+118G>T r.(=) p.(=)
./. - c.1637-69G>A r.(=) p.(=)
./. - c.1726G>A r.(?) p.(Gly576Ser)
./. - c.1754+12G>A r.(=) p.(=)
./. - c.1754+56T>C r.(=) p.(=)
./. - c.1754+100C>T r.(=) p.(=)
./. - c.1754+104C>G r.(=) p.(=)
./. - c.1754+144C>T r.(=) p.(=)
./. - c.1755-18T>C r.(=) p.(=)
./. - c.1830C>T r.(=) p.(=)
./. - c.1841C>T r.(?) p.(Thr614Met)
./. - c.1888+21G>A r.(=) p.(=)
./. - c.2040+16C>T r.(=) p.(=)
./. - c.2040+20A>G r.(=) p.(=)
./. - c.2040+66C>T r.(=) p.(=)
./. - c.2040+69A>G r.(=) p.(=)
./. - c.2041-64G>A r.(=) p.(=)
./. - c.2065G>A r.(?) p.(Glu689Lys)
./. - c.2133A>G r.(=) p.(=)
./. - c.2189+95C>T r.(=) p.(=)
./. - c.2190-30C>T r.(=) p.(=)
./. - c.2190-29G>A r.(=) p.(=)
./. - c.2190-4G>A r.spl? p.?
./. - c.2238G>C r.(?) p.(Trp746Cys)
./. - c.2331+20G>A r.(=) p.(=)
./. - c.2331+24T>C r.(=) p.(=)
./. - c.2332-54C>T r.(=) p.(=)
./. - c.2332-40C>G r.(=) p.(=)
./. - c.2332-12A>T r.(=) p.(=)
./. - c.2338G>A r.(?) p.(Val780Ile)
./. - c.2395C>T r.(?) p.(His799Tyr)
./. - c.2400C>T r.(=) p.(=)
./. - c.2417C>T r.(?) p.(Thr806Met)
./. - c.2446G>A r.(?) p.(Val816Ile)
./. - c.2482-132C>T r.(=) p.(=)
./. - c.2482-92_2482-91insG r.(=) p.(=)
./. - c.2482-69del r.(=) p.(=)
./. - c.2553G>A r.(=) p.(=)
./. - c.2553G>C r.(=) p.(=)
./. - c.2580C>T r.(=) p.(=)
./. - c.2609G>A r.(?) p.(Arg870Gln)
./. - c.2646+39G>A r.(=) p.(=)
./. - c.2646+55G>T r.(=) p.(=)
./. - c.2647-71G>C r.(=) p.(=)
./. - c.2780C>T r.(?) p.(Thr927Ile)
./. - c.2799+40G>C r.(=) p.(=)
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