Canonical Allele Identifier: CA1619397061

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039594A= , CM000668.2:g.32039594A=	GRCh38
NC_000006.11:g.32007371A= , CM000668.1:g.32007371A=	GRCh37
NC_000006.10:g.32115350A=	NCBI36
NG_007941.2:g.6287A=
NG_008337.2:g.74781T=
NG_007941.3:g.6290A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.598A= MANE Select	ENSP00000496625.1:p.Lys200=
ENST00000418967.6:c.598A=	ENSP00000408860.2:p.Lys200=
ENST00000435122.3:c.508A=	ENSP00000415043.2:p.Lys170=
ENST00000462278.1:n.186A=
ENST00000464325.5:n.519A=
ENST00000466779.5:c.*290A=	ENSP00000417321.1:n.*290A=
ENST00000466879.5:n.649A=
ENST00000469053.5:c.*290A=	ENSP00000418104.1:n.*290A=
ENST00000471671.4:c.559A=	ENSP00000418561.1:p.Lys187=
ENST00000479074.5:n.656A=
ENST00000479730.5:n.714A=
ENST00000483041.5:n.767A=
ENST00000486063.5:n.778A=
NM_000500.7:c.598A=	NP_000491.4:p.Lys200=
NM_001128590.3:c.508A=	NP_001122062.3:p.Lys170=
XM_011514314.1:c.193A=	XP_011512616.1:p.Lys65=
NM_000500.9:c.598A= MANE Select	NP_000491.4:p.Lys200=
NM_001368143.1:c.193A=	NP_001355072.1:p.Lys65=
NM_001368144.1:c.193A=	NP_001355073.1:p.Lys65=
NM_001128590.4:c.508A=	NP_001122062.3:p.Lys170=
NM_001368143.2:c.193A=	NP_001355072.1:p.Lys65=
NM_001368144.2:c.193A=	NP_001355073.1:p.Lys65=