Canonical Allele Identifier: CA2672748753
Gene: AGA-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442650A>T , CM000666.2:g.177442650A>T GRCh38
NC_000004.11:g.178363804A>T , CM000666.1:g.178363804A>T GRCh37
NC_000004.10:g.178600798A>T NCBI36
NG_011845.2:g.4854T>A

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.82+69A>T