Canonical Allele Identifier: CA2672748619
Gene: AGA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442481C>G , CM000666.2:g.177442481C>G GRCh38
NC_000004.11:g.178363635C>G , CM000666.1:g.178363635C>G GRCh37
NC_000004.10:g.178600629C>G NCBI36
NG_011845.2:g.5023G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.6:c.-106G>C ENSP00000264595.2:n.-106G>C
NM_000027.3:c.-106G>C NP_000018.2:n.-106G>C
NM_001171988.1:c.-106G>C NP_001165459.1:n.-106G>C
NR_033655.1:n.23G>C
XM_006714123.2:c.-106G>C XP_006714186.1:n.-106G>C