Canonical Allele Identifier: CA2672748737
Gene: AGA-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442634G>A , CM000666.2:g.177442634G>A GRCh38
NC_000004.11:g.178363788G>A , CM000666.1:g.178363788G>A GRCh37
NC_000004.10:g.178600782G>A NCBI36
NG_011845.2:g.4870C>T

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.82+53G>A