Canonical Allele Identifier: CA110792146
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs982174297
MyVariant Identifiers: chr4:g.177442490G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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