Canonical Allele Identifier: CA1619396803

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039158C= , CM000668.2:g.32039158C=	GRCh38
NC_000006.11:g.32006935C= , CM000668.1:g.32006935C=	GRCh37
NC_000006.10:g.32114914C=	NCBI36
NG_007941.2:g.5851C=
NG_008337.2:g.75217G=
NG_007941.3:g.5854C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.357C= MANE Select	ENSP00000496625.1:p.Ala119=
ENST00000418967.6:c.357C=	ENSP00000408860.2:p.Ala119=
ENST00000435122.3:c.267C=	ENSP00000415043.2:p.Ala89=
ENST00000464325.5:n.278C=
ENST00000466779.5:c.*49C=	ENSP00000417321.1:n.*49C=
ENST00000466879.5:n.408C=
ENST00000469053.5:c.*49C=	ENSP00000418104.1:n.*49C=
ENST00000471671.4:c.357C=	ENSP00000418561.1:p.Ala119=
ENST00000478281.5:c.390C=	ENSP00000419572.1:p.Ala130=
ENST00000479074.5:n.415C=
ENST00000479730.5:n.512C=
ENST00000483041.5:n.526C=
ENST00000486063.5:n.537C=
ENST00000488465.1:n.365C=
NM_000500.7:c.357C=	NP_000491.4:p.Ala119=
NM_001128590.3:c.267C=	NP_001122062.3:p.Ala89=
XM_011514314.1:c.-49C=	XP_011512616.1:n.-49C=
NM_000500.9:c.357C= MANE Select	NP_000491.4:p.Ala119=
NM_001368143.1:c.-49C=	NP_001355072.1:n.-49C=
NM_001368144.1:c.-49C=	NP_001355073.1:n.-49C=
NM_001128590.4:c.267C=	NP_001122062.3:p.Ala89=
NM_001368143.2:c.-49C=	NP_001355072.1:n.-49C=
NM_001368144.2:c.-49C=	NP_001355073.1:n.-49C=