Canonical Allele Identifier: CA2810586594
Gene: GAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80101564C>A , CM000679.2:g.80101564C>A GRCh38
NC_000017.10:g.78075363C>A , CM000679.1:g.78075363C>A GRCh37
NC_000017.9:g.75689958C>A NCBI36
NG_009822.1:g.5009C>A , LRG_673:g.5009C>A
NG_029761.1:g.69933C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.-94C>A ENSP00000460543.2:n.-94C>A
ENST00000570803.5:c.-94C>A ENSP00000460543.1:n.-94C>A
NM_000152.3:c.-359C>A , LRG_673t1:c.-359C>A NP_000143.2:n.-359C>A
NM_001079803.1:c.-174C>A NP_001073271.1:n.-174C>A
NM_001079804.1:c.-94C>A NP_001073272.1:n.-94C>A
XM_005257194.3:c.-209C>A XP_005257251.1:n.-209C>A
NM_000152.4:c.-359C>A NP_000143.2:n.-359C>A
NM_001079803.2:c.-174C>A NP_001073271.1:n.-174C>A
NM_001079804.2:c.-94C>A NP_001073272.1:n.-94C>A
NR_134848.1:n.39C>A
XM_005257194.4:c.-209C>A XP_005257251.1:n.-209C>A