Canonical Allele Identifier: CA1515650275
Gene: AGA-DT HGNC NCBI

Linked Data

dbSNP Id: rs906346457

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442592C>G , CM000666.2:g.177442592C>G GRCh38
NC_000004.11:g.178363746C>G , CM000666.1:g.178363746C>G GRCh37
NC_000004.10:g.178600740C>G NCBI36
NG_011845.2:g.4912G>C

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.82+11C>G