Canonical Allele Identifier: CA2810586586
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80101528C>T , CM000679.2:g.80101528C>T GRCh38
NC_000017.10:g.78075327C>T , CM000679.1:g.78075327C>T GRCh37
NC_000017.9:g.75689922C>T NCBI36
NG_009822.1:g.4973C>T , LRG_673:g.4973C>T
NG_029761.1:g.69897C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000152.4:c.-395C>T NP_000143.2:n.-395C>T
NM_001079803.2:c.-210C>T NP_001073271.1:n.-210C>T
NM_001079804.2:c.-130C>T NP_001073272.1:n.-130C>T
NR_134848.1:n.3C>T
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