Canonical Allele Identifier: CA1515643436
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177438762G= , CM000666.2:g.177438762G= GRCh38
NC_000004.11:g.178359916G= , CM000666.1:g.178359916G= GRCh37
NC_000004.10:g.178596910G= NCBI36
NG_011845.2:g.8742C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.490C= MANE Select ENSP00000264595.2:p.Gln164=
ENST00000264595.6:c.490C= ENSP00000264595.2:p.Gln164=
ENST00000502310.5:c.145C= ENSP00000423798.1:p.Gln49=
ENST00000506853.5:n.524C=
ENST00000510635.1:c.186C=
ENST00000510955.5:n.411C=
NM_000027.3:c.490C= NP_000018.2:p.Gln164=
NM_001171988.1:c.490C= NP_001165459.1:p.Gln164=
NR_033655.1:n.618C=
XM_006714123.2:c.490C= XP_006714186.1:p.Gln164=
XR_001741155.2:n.584C=
NM_000027.4:c.490C= MANE Select NP_000018.2:p.Gln164=
NM_001171988.2:c.490C= NP_001165459.1:p.Gln164=
NR_033655.2:n.552C=