Canonical Allele Identifier: CA1515644758
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439618C= , CM000666.2:g.177439618C= GRCh38
NC_000004.11:g.178360772C= , CM000666.1:g.178360772C= GRCh37
NC_000004.10:g.178597766C= NCBI36
NG_011845.2:g.7886G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.352G= MANE Select ENSP00000264595.2:p.Val118=
ENST00000264595.6:c.352G= ENSP00000264595.2:p.Val118=
ENST00000502310.5:c.7G= ENSP00000423798.1:p.Val3=
ENST00000506853.5:n.386G=
ENST00000510635.1:c.48G=
ENST00000510955.5:n.315+655G=
NM_000027.3:c.352G= NP_000018.2:p.Val118=
NM_001171988.1:c.352G= NP_001165459.1:p.Val118=
NR_033655.1:n.480G=
XM_006714123.2:c.352G= XP_006714186.1:p.Val118=
XR_001741155.2:n.446G=
NM_000027.4:c.352G= MANE Select NP_000018.2:p.Val118=
NM_001171988.2:c.352G= NP_001165459.1:p.Val118=
NR_033655.2:n.414G=