Canonical Allele Identifier: CA2672748667
Gene: AGA-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442539G>A , CM000666.2:g.177442539G>A GRCh38
NC_000004.11:g.178363693G>A , CM000666.1:g.178363693G>A GRCh37
NC_000004.10:g.178600687G>A NCBI36
NG_011845.2:g.4965C>T

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.40G>A