Canonical Allele Identifier: CA2672748738
Gene: AGA-DT HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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