Canonical Allele Identifier: CA2672748719
Gene: AGA-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442599C>T , CM000666.2:g.177442599C>T GRCh38
NC_000004.11:g.178363753C>T , CM000666.1:g.178363753C>T GRCh37
NC_000004.10:g.178600747C>T NCBI36
NG_011845.2:g.4905G>A

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.82+18C>T