Canonical Allele Identifier: CA401324771
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1972115
ClinVar RCV Id: RCV002745939
dbSNP Id: rs1800312
MyVariant Identifiers: chr17:g.78090815G>T (hg19) chr17:g.80117016G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80117016G>T , CM000679.2:g.80117016G>T GRCh38
NC_000017.10:g.78090815G>T , CM000679.1:g.78090815G>T GRCh37
NC_000017.9:g.75705410G>T NCBI36
NG_009822.1:g.20461G>T , LRG_673:g.20461G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2238G>T ENSP00000460543.2:p.Trp746Cys
ENST00000572080.2:c.*376G>T ENSP00000459972.2:n.*376G>T
ENST00000577106.6:c.2238G>T ENSP00000458306.2:p.Trp746Cys
ENST00000302262.8:c.2238G>T MANE Select ENSP00000305692.3:p.Trp746Cys
ENST00000302262.7:c.2238G>T ENSP00000305692.3:p.Trp746Cys
ENST00000390015.7:c.2238G>T ENSP00000374665.3:p.Trp746Cys
ENST00000572080.1:c.657G>T
ENST00000573556.1:n.191G>T
NM_000152.3:c.2238G>T , LRG_673t1:c.2238G>T NP_000143.2:p.Trp746Cys
NM_001079803.1:c.2238G>T NP_001073271.1:p.Trp746Cys
NM_001079804.1:c.2238G>T NP_001073272.1:p.Trp746Cys
XM_005257193.1:c.2238G>T XP_005257250.1:p.Trp746Cys
XM_005257194.3:c.2238G>T XP_005257251.1:p.Trp746Cys
NM_000152.4:c.2238G>T NP_000143.2:p.Trp746Cys
NM_001079803.2:c.2238G>T NP_001073271.1:p.Trp746Cys
NM_001079804.2:c.2238G>T NP_001073272.1:p.Trp746Cys
XM_005257193.2:c.2238G>T XP_005257250.1:p.Trp746Cys
XM_005257194.4:c.2238G>T XP_005257251.1:p.Trp746Cys
NM_000152.5:c.2238G>T MANE Select NP_000143.2:p.Trp746Cys
NM_001079803.3:c.2238G>T NP_001073271.1:p.Trp746Cys
NM_001079804.3:c.2238G>T NP_001073272.1:p.Trp746Cys
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