Canonical Allele Identifier: CA8815665
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 265160
dbSNP Id: rs1800312

Genomic Alleles

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

Transcript Alleles

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