Canonical Allele Identifier: CA2672748662
Gene: AGA-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442530G>C , CM000666.2:g.177442530G>C GRCh38
NC_000004.11:g.178363684G>C , CM000666.1:g.178363684G>C GRCh37
NC_000004.10:g.178600678G>C NCBI36
NG_011845.2:g.4974C>G

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.31G>C