Canonical Allele Identifier: CA1515641939
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437490G= , CM000666.2:g.177437490G= GRCh38
NC_000004.11:g.178358644G= , CM000666.1:g.178358644G= GRCh37
NC_000004.10:g.178595638G= NCBI36
NG_011845.2:g.10014C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.537C= MANE Select ENSP00000264595.2:p.Cys179=
ENST00000264595.6:c.537C= ENSP00000264595.2:p.Cys179=
ENST00000502310.5:c.192C= ENSP00000423798.1:p.Cys64=
ENST00000506853.5:n.571C=
ENST00000510635.1:c.233C=
ENST00000510955.5:n.458C=
NM_000027.3:c.537C= NP_000018.2:p.Cys179=
NM_001171988.1:c.537C= NP_001165459.1:p.Cys179=
NR_033655.1:n.665C=
XM_006714123.2:c.537C= XP_006714186.1:p.Cys179=
XR_001741155.2:n.631C=
NM_000027.4:c.537C= MANE Select NP_000018.2:p.Cys179=
NM_001171988.2:c.537C= NP_001165459.1:p.Cys179=
NR_033655.2:n.599C=