Canonical Allele Identifier: CA1515644775
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439624G= , CM000666.2:g.177439624G= GRCh38
NC_000004.11:g.178360778G= , CM000666.1:g.178360778G= GRCh37
NC_000004.10:g.178597772G= NCBI36
NG_011845.2:g.7880C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.346C= MANE Select ENSP00000264595.2:p.Arg116=
ENST00000264595.6:c.346C= ENSP00000264595.2:p.Arg116=
ENST00000502310.5:c.1C= ENSP00000423798.1:p.Arg1=
ENST00000506853.5:n.380C=
ENST00000510635.1:c.42C=
ENST00000510955.5:n.315+649C=
NM_000027.3:c.346C= NP_000018.2:p.Arg116=
NM_001171988.1:c.346C= NP_001165459.1:p.Arg116=
NR_033655.1:n.474C=
XM_006714123.2:c.346C= XP_006714186.1:p.Arg116=
XR_001741155.2:n.440C=
NM_000027.4:c.346C= MANE Select NP_000018.2:p.Arg116=
NM_001171988.2:c.346C= NP_001165459.1:p.Arg116=
NR_033655.2:n.408C=