Canonical Allele Identifier: CA2672748743
Gene: AGA-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442643G>T , CM000666.2:g.177442643G>T GRCh38
NC_000004.11:g.178363797G>T , CM000666.1:g.178363797G>T GRCh37
NC_000004.10:g.178600791G>T NCBI36
NG_011845.2:g.4861C>A

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.82+62G>T