Canonical Allele Identifier: CA1619397149

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039767C= , CM000668.2:g.32039767C=	GRCh38
NC_000006.11:g.32007544C= , CM000668.1:g.32007544C=	GRCh37
NC_000006.10:g.32115523C=	NCBI36
NG_007941.2:g.6460C=
NG_008337.2:g.74608G=
NG_007941.3:g.6463C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.670C= MANE Select	ENSP00000496625.1:p.Leu224=
ENST00000418967.6:c.670C=	ENSP00000408860.2:p.Leu224=
ENST00000435122.3:c.580C=	ENSP00000415043.2:p.Leu194=
ENST00000462278.1:n.359C=
ENST00000466779.5:c.*362C=	ENSP00000417321.1:n.*362C=
ENST00000466879.5:n.721C=
ENST00000479074.5:n.728C=
ENST00000479730.5:n.786C=
ENST00000483041.5:n.839C=
ENST00000486063.5:n.850C=
NM_000500.7:c.670C=	NP_000491.4:p.Leu224=
NM_001128590.3:c.580C=	NP_001122062.3:p.Leu194=
XM_011514314.1:c.265C=	XP_011512616.1:p.Leu89=
NM_000500.9:c.670C= MANE Select	NP_000491.4:p.Leu224=
NM_001368143.1:c.265C=	NP_001355072.1:p.Leu89=
NM_001368144.1:c.265C=	NP_001355073.1:p.Leu89=
NM_001128590.4:c.580C=	NP_001122062.3:p.Leu194=
NM_001368143.2:c.265C=	NP_001355072.1:p.Leu89=
NM_001368144.2:c.265C=	NP_001355073.1:p.Leu89=