Canonical Allele Identifier: CA1619399504

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040928G= , CM000668.2:g.32040928G=	GRCh38
NC_000006.11:g.32008705G= , CM000668.1:g.32008705G=	GRCh37
NC_000006.10:g.32116684G=	NCBI36
NG_007941.2:g.7621G=
NG_008337.2:g.73447C=
NG_007941.3:g.7624G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1282G= MANE Select	ENSP00000496625.1:p.Val428=
ENST00000418967.6:c.1282G=	ENSP00000408860.2:p.Val428=
ENST00000435122.3:c.1192G=	ENSP00000415043.2:p.Val398=
ENST00000479074.5:n.1423G=
ENST00000479730.5:n.1398G=
ENST00000483041.5:n.1451G=
ENST00000486063.5:n.1261G=
NM_000500.7:c.1282G=	NP_000491.4:p.Val428=
NM_001128590.3:c.1192G=	NP_001122062.3:p.Val398=
XM_011514314.1:c.877G=	XP_011512616.1:p.Val293=
NM_000500.9:c.1282G= MANE Select	NP_000491.4:p.Val428=
NM_001368143.1:c.877G=	NP_001355072.1:p.Val293=
NM_001368144.1:c.877G=	NP_001355073.1:p.Val293=
NM_001128590.4:c.1192G=	NP_001122062.3:p.Val398=
NM_001368143.2:c.877G=	NP_001355072.1:p.Val293=
NM_001368144.2:c.877G=	NP_001355073.1:p.Val293=