Canonical Allele Identifier: CA1619397161

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039788A= , CM000668.2:g.32039788A=	GRCh38
NC_000006.11:g.32007565A= , CM000668.1:g.32007565A=	GRCh37
NC_000006.10:g.32115544A=	NCBI36
NG_007941.2:g.6481A=
NG_008337.2:g.74587T=
NG_007941.3:g.6484A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.691A= MANE Select	ENSP00000496625.1:p.Ile231=
ENST00000418967.6:c.691A=	ENSP00000408860.2:p.Ile231=
ENST00000435122.3:c.601A=	ENSP00000415043.2:p.Ile201=
ENST00000462278.1:n.380A=
ENST00000466779.5:c.*383A=	ENSP00000417321.1:n.*383A=
ENST00000466879.5:n.742A=
ENST00000479074.5:n.749A=
ENST00000479730.5:n.807A=
ENST00000483041.5:n.860A=
ENST00000486063.5:n.871A=
NM_000500.7:c.691A=	NP_000491.4:p.Ile231=
NM_001128590.3:c.601A=	NP_001122062.3:p.Ile201=
XM_011514314.1:c.286A=	XP_011512616.1:p.Ile96=
NM_000500.9:c.691A= MANE Select	NP_000491.4:p.Ile231=
NM_001368143.1:c.286A=	NP_001355072.1:p.Ile96=
NM_001368144.1:c.286A=	NP_001355073.1:p.Ile96=
NM_001128590.4:c.601A=	NP_001122062.3:p.Ile201=
NM_001368143.2:c.286A=	NP_001355072.1:p.Ile96=
NM_001368144.2:c.286A=	NP_001355073.1:p.Ile96=