Canonical Allele Identifier: CA8814755
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 283494
dbSNP Id: rs560511228

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80104585C>T , CM000679.2:g.80104585C>T GRCh38
NC_000017.10:g.78078384C>T , CM000679.1:g.78078384C>T GRCh37
NC_000017.9:g.75692979C>T NCBI36
NG_009822.1:g.8030C>T , LRG_673:g.8030C>T

Transcript Alleles

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