Canonical Allele Identifier: CA2277808982
Gene: GAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80101578G= , CM000679.2:g.80101578G= GRCh38
NC_000017.10:g.78075377G= , CM000679.1:g.78075377G= GRCh37
NC_000017.9:g.75689972G= NCBI36
NG_009822.1:g.5023G= , LRG_673:g.5023G=
NG_029761.1:g.69947G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.-80G= ENSP00000460543.2:n.-80G=
ENST00000577106.6:c.-195G= ENSP00000458306.2:n.-195G=
ENST00000570803.5:c.-80G= ENSP00000460543.1:n.-80G=
NM_000152.3:c.-345G= , LRG_673t1:c.-345G= NP_000143.2:n.-345G=
NM_001079803.1:c.-160G= NP_001073271.1:n.-160G=
NM_001079804.1:c.-80G= NP_001073272.1:n.-80G=
XM_005257194.3:c.-195G= XP_005257251.1:n.-195G=
NM_000152.4:c.-345G= NP_000143.2:n.-345G=
NM_001079803.2:c.-160G= NP_001073271.1:n.-160G=
NM_001079804.2:c.-80G= NP_001073272.1:n.-80G=
NR_134848.1:n.53G=
XM_005257194.4:c.-195G= XP_005257251.1:n.-195G=