Canonical Allele Identifier: CA8814791
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 426593
dbSNP Id: rs767409395

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80104704C>T , CM000679.2:g.80104704C>T GRCh38
NC_000017.10:g.78078503C>T , CM000679.1:g.78078503C>T GRCh37
NC_000017.9:g.75693098C>T NCBI36
NG_009822.1:g.8149C>T , LRG_673:g.8149C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000302262.8:c.118C>T MANE Select ENSP00000305692.3:p.Arg40Ter
ENST00000302262.7:c.118C>T ENSP00000305692.3:p.Arg40Ter
ENST00000390015.7:c.118C>T ENSP00000374665.3:p.Arg40Ter
ENST00000570803.5:c.118C>T ENSP00000460543.1:p.Arg40Ter
ENST00000577106.5:c.118C>T ENSP00000458306.1:p.Arg40Ter
NM_000152.3:c.118C>T , LRG_673t1:c.118C>T NP_000143.2:p.Arg40Ter
NM_001079803.1:c.118C>T NP_001073271.1:p.Arg40Ter
NM_001079804.1:c.118C>T NP_001073272.1:p.Arg40Ter
XM_005257193.1:c.118C>T XP_005257250.1:p.Arg40Ter
XM_005257194.3:c.118C>T XP_005257251.1:p.Arg40Ter
NM_000152.4:c.118C>T NP_000143.2:p.Arg40Ter
NM_001079803.2:c.118C>T NP_001073271.1:p.Arg40Ter
NM_001079804.2:c.118C>T NP_001073272.1:p.Arg40Ter
XM_005257193.2:c.118C>T XP_005257250.1:p.Arg40Ter
XM_005257194.4:c.118C>T XP_005257251.1:p.Arg40Ter
NM_000152.5:c.118C>T MANE Select NP_000143.2:p.Arg40Ter
NM_001079803.3:c.118C>T NP_001073271.1:p.Arg40Ter
NM_001079804.3:c.118C>T NP_001073272.1:p.Arg40Ter