Canonical Allele Identifier: CA556485876
Gene: AGA-DT HGNC NCBI

Linked Data

dbSNP Id: rs1372516911

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442586T>C , CM000666.2:g.177442586T>C GRCh38
NC_000004.11:g.178363740T>C , CM000666.1:g.178363740T>C GRCh37
NC_000004.10:g.178600734T>C NCBI36
NG_011845.2:g.4918A>G

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.82+5T>C