Canonical Allele Identifier: CA1619399223

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040440A= , CM000668.2:g.32040440A=	GRCh38
NC_000006.11:g.32008217A= , CM000668.1:g.32008217A=	GRCh37
NC_000006.10:g.32116196A=	NCBI36
NG_007941.2:g.7133A=
NG_008337.2:g.73935T=
NG_007941.3:g.7136A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.974A= MANE Select	ENSP00000496625.1:p.Glu325=
ENST00000418967.6:c.974A=	ENSP00000408860.2:p.Glu325=
ENST00000435122.3:c.884A=	ENSP00000415043.2:p.Glu295=
ENST00000479074.5:n.1032A=
ENST00000479730.5:n.1090A=
ENST00000483041.5:n.1143A=
ENST00000486063.5:n.953A=
NM_000500.7:c.974A=	NP_000491.4:p.Glu325=
NM_001128590.3:c.884A=	NP_001122062.3:p.Glu295=
XM_011514314.1:c.569A=	XP_011512616.1:p.Glu190=
NM_000500.9:c.974A= MANE Select	NP_000491.4:p.Glu325=
NM_001368143.1:c.569A=	NP_001355072.1:p.Glu190=
NM_001368144.1:c.569A=	NP_001355073.1:p.Glu190=
NM_001128590.4:c.884A=	NP_001122062.3:p.Glu295=
NM_001368143.2:c.569A=	NP_001355072.1:p.Glu190=
NM_001368144.2:c.569A=	NP_001355073.1:p.Glu190=