Canonical Allele Identifier: CA1619397059

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039592T= , CM000668.2:g.32039592T=	GRCh38
NC_000006.11:g.32007369T= , CM000668.1:g.32007369T=	GRCh37
NC_000006.10:g.32115348T=	NCBI36
NG_007941.2:g.6285T=
NG_008337.2:g.74783A=
NG_007941.3:g.6288T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.596T= MANE Select	ENSP00000496625.1:p.Leu199=
ENST00000418967.6:c.596T=	ENSP00000408860.2:p.Leu199=
ENST00000435122.3:c.506T=	ENSP00000415043.2:p.Leu169=
ENST00000462278.1:n.184T=
ENST00000464325.5:n.517T=
ENST00000466779.5:c.*288T=	ENSP00000417321.1:n.*288T=
ENST00000466879.5:n.647T=
ENST00000469053.5:c.*288T=	ENSP00000418104.1:n.*288T=
ENST00000471671.4:c.557T=	ENSP00000418561.1:p.Leu186=
ENST00000479074.5:n.654T=
ENST00000479730.5:n.712T=
ENST00000483041.5:n.765T=
ENST00000486063.5:n.776T=
NM_000500.7:c.596T=	NP_000491.4:p.Leu199=
NM_001128590.3:c.506T=	NP_001122062.3:p.Leu169=
XM_011514314.1:c.191T=	XP_011512616.1:p.Leu64=
NM_000500.9:c.596T= MANE Select	NP_000491.4:p.Leu199=
NM_001368143.1:c.191T=	NP_001355072.1:p.Leu64=
NM_001368144.1:c.191T=	NP_001355073.1:p.Leu64=
NM_001128590.4:c.506T=	NP_001122062.3:p.Leu169=
NM_001368143.2:c.191T=	NP_001355072.1:p.Leu64=
NM_001368144.2:c.191T=	NP_001355073.1:p.Leu64=