Canonical Allele Identifier: CA1619397273

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040013C= , CM000668.2:g.32040013C=	GRCh38
NC_000006.11:g.32007790C= , CM000668.1:g.32007790C=	GRCh37
NC_000006.10:g.32115769C=	NCBI36
NG_007941.2:g.6706C=
NG_008337.2:g.74362G=
NG_007941.3:g.6709C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.747C= MANE Select	ENSP00000496625.1:p.Leu249=
ENST00000418967.6:c.747C=	ENSP00000408860.2:p.Leu249=
ENST00000435122.3:c.657C=	ENSP00000415043.2:p.Leu219=
ENST00000479074.5:n.805C=
ENST00000479730.5:n.863C=
ENST00000483041.5:n.916C=
ENST00000486063.5:n.918+178C=
NM_000500.7:c.747C=	NP_000491.4:p.Leu249=
NM_001128590.3:c.657C=	NP_001122062.3:p.Leu219=
XM_011514314.1:c.342C=	XP_011512616.1:p.Leu114=
NM_000500.9:c.747C= MANE Select	NP_000491.4:p.Leu249=
NM_001368143.1:c.342C=	NP_001355072.1:p.Leu114=
NM_001368144.1:c.342C=	NP_001355073.1:p.Leu114=
NM_001128590.4:c.657C=	NP_001122062.3:p.Leu219=
NM_001368143.2:c.342C=	NP_001355072.1:p.Leu114=
NM_001368144.2:c.342C=	NP_001355073.1:p.Leu114=