Canonical Allele Identifier: CA1515641834
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437432C= , CM000666.2:g.177437432C= GRCh38
NC_000004.11:g.178358586C= , CM000666.1:g.178358586C= GRCh37
NC_000004.10:g.178595580C= NCBI36
NG_011845.2:g.10072G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.595G= MANE Select ENSP00000264595.2:p.Glu199=
ENST00000264595.6:c.595G= ENSP00000264595.2:p.Glu199=
ENST00000502310.5:c.250G= ENSP00000423798.1:p.Glu84=
ENST00000506853.5:n.629G=
ENST00000510635.1:c.291G=
ENST00000510955.5:n.516G=
NM_000027.3:c.595G= NP_000018.2:p.Glu199=
NM_001171988.1:c.595G= NP_001165459.1:p.Glu199=
NR_033655.1:n.723G=
XM_006714123.2:c.595G= XP_006714186.1:p.Glu199=
XR_001741155.2:n.689G=
NM_000027.4:c.595G= MANE Select NP_000018.2:p.Glu199=
NM_001171988.2:c.595G= NP_001165459.1:p.Glu199=
NR_033655.2:n.657G=