Canonical Allele Identifier: CA1619397172

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039810T= , CM000668.2:g.32039810T=	GRCh38
NC_000006.11:g.32007587T= , CM000668.1:g.32007587T=	GRCh37
NC_000006.10:g.32115566T=	NCBI36
NG_007941.2:g.6503T=
NG_008337.2:g.74565A=
NG_007941.3:g.6506T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000500.9:c.713T= MANE Select	NP_000491.4:p.Val238=
ENST00000644719.2:c.713T= MANE Select	ENSP00000496625.1:p.Val238=
NM_000500.7:c.713T=	NP_000491.4:p.Val238=
NM_001128590.3:c.623T=	NP_001122062.3:p.Val208=
NM_001128590.4:c.623T=	NP_001122062.3:p.Val208=
NM_001368143.1:c.308T=	NP_001355072.1:p.Val103=
NM_001368143.2:c.308T=	NP_001355072.1:p.Val103=
NM_001368144.1:c.308T=	NP_001355073.1:p.Val103=
NM_001368144.2:c.308T=	NP_001355073.1:p.Val103=
ENST00000418967.6:c.713T=	ENSP00000408860.2:p.Val238=
ENST00000435122.3:c.623T=	ENSP00000415043.2:p.Val208=
ENST00000462278.1:n.402T=
ENST00000466779.5:c.*405T=	ENSP00000417321.1:n.*405T=
ENST00000466879.5:n.764T=
ENST00000479074.5:n.771T=
ENST00000479730.5:n.829T=
ENST00000483041.5:n.882T=
ENST00000486063.5:n.893T=
XM_011514314.1:c.308T=	XP_011512616.1:p.Val103=