Canonical Allele Identifier: CA1515637685
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434446C= , CM000666.2:g.177434446C= GRCh38
NC_000004.11:g.178355600C= , CM000666.1:g.178355600C= GRCh37
NC_000004.10:g.178592594C= NCBI36
NG_011845.2:g.13058G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.742G= MANE Select ENSP00000264595.2:p.Asp248=
ENST00000264595.6:c.742G= ENSP00000264595.2:p.Asp248=
ENST00000502310.5:c.313G= ENSP00000423798.1:p.Asp105=
ENST00000506853.5:n.700G=
ENST00000510635.1:c.408G=
NM_000027.3:c.742G= NP_000018.2:p.Asp248=
NM_001171988.1:c.712G= NP_001165459.1:p.Asp238=
NR_033655.1:n.794G=
XM_006714123.2:c.*36G= XP_006714186.1:n.*36G=
XR_001741155.2:n.814G=
NM_000027.4:c.742G= MANE Select NP_000018.2:p.Asp248=
NM_001171988.2:c.712G= NP_001165459.1:p.Asp238=
NR_033655.2:n.728G=