Canonical Allele Identifier: CA2707744125
Gene: AGA-DT HGNC NCBI

Linked Data

dbSNP Id: rs2111029695

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442603T>G , CM000666.2:g.177442603T>G GRCh38
NC_000004.11:g.178363757T>G , CM000666.1:g.178363757T>G GRCh37
NC_000004.10:g.178600751T>G NCBI36
NG_011845.2:g.4901A>C

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.82+22T>G