Canonical Allele Identifier: CA358784639
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1347456058

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440405C>G , CM000666.2:g.177440405C>G GRCh38
NC_000004.11:g.178361559C>G , CM000666.1:g.178361559C>G GRCh37
NC_000004.10:g.178598553C>G NCBI36
NG_011845.2:g.7099G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.149G>C MANE Select ENSP00000264595.2:p.Gly50Ala
ENST00000264595.6:c.149G>C ENSP00000264595.2:p.Gly50Ala
ENST00000506853.5:n.183G>C
ENST00000510955.5:n.183G>C
ENST00000511231.1:n.183G>C
NM_000027.3:c.149G>C NP_000018.2:p.Gly50Ala
NM_001171988.1:c.149G>C NP_001165459.1:p.Gly50Ala
NR_033655.1:n.277G>C
XM_006714123.2:c.149G>C XP_006714186.1:p.Gly50Ala
XR_001741155.2:n.243G>C
NM_000027.4:c.149G>C MANE Select NP_000018.2:p.Gly50Ala
NM_001171988.2:c.149G>C NP_001165459.1:p.Gly50Ala
NR_033655.2:n.211G>C