Canonical Allele Identifier: CA2672748702
Gene: AGA-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442579A>C , CM000666.2:g.177442579A>C GRCh38
NC_000004.11:g.178363733A>C , CM000666.1:g.178363733A>C GRCh37
NC_000004.10:g.178600727A>C NCBI36
NG_011845.2:g.4925T>G

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.80A>C