Canonical Allele Identifier: CA2672748627
Gene: AGA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442490G>A , CM000666.2:g.177442490G>A GRCh38
NC_000004.11:g.178363644G>A , CM000666.1:g.178363644G>A GRCh37
NC_000004.10:g.178600638G>A NCBI36
NG_011845.2:g.5014C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.6:c.-115C>T ENSP00000264595.2:n.-115C>T
NM_000027.3:c.-115C>T NP_000018.2:n.-115C>T
NM_001171988.1:c.-115C>T NP_001165459.1:n.-115C>T
NR_033655.1:n.14C>T
XM_006714123.2:c.-115C>T XP_006714186.1:n.-115C>T