Canonical Allele Identifier: CA1515637772
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434489G= , CM000666.2:g.177434489G= GRCh38
NC_000004.11:g.178355643G= , CM000666.1:g.178355643G= GRCh37
NC_000004.10:g.178592637G= NCBI36
NG_011845.2:g.13015C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.699C= MANE Select ENSP00000264595.2:p.Gly233=
ENST00000264595.6:c.699C= ENSP00000264595.2:p.Gly233=
ENST00000502310.5:c.278-8C= ENSP00000423798.1:n.278-8C=
ENST00000506853.5:n.657C=
ENST00000510635.1:c.373-8C=
NM_000027.3:c.699C= NP_000018.2:p.Gly233=
NM_001171988.1:c.677-8C= NP_001165459.1:n.677-8C=
NR_033655.1:n.751C=
XM_006714123.2:c.677C= XP_006714186.1:p.Ala226=
XR_001741155.2:n.771C=
NM_000027.4:c.699C= MANE Select NP_000018.2:p.Gly233=
NM_001171988.2:c.677-8C= NP_001165459.1:n.677-8C=
NR_033655.2:n.685C=