Canonical Allele Identifier: CA1619399254

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040501G= , CM000668.2:g.32040501G=	GRCh38
NC_000006.11:g.32008278G= , CM000668.1:g.32008278G=	GRCh37
NC_000006.10:g.32116257G=	NCBI36
NG_007941.2:g.7194G=
NG_008337.2:g.73874C=
NG_007941.3:g.7197G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1035G= MANE Select	ENSP00000496625.1:p.Leu345=
ENST00000418967.6:c.1035G=	ENSP00000408860.2:p.Leu345=
ENST00000435122.3:c.945G=	ENSP00000415043.2:p.Leu315=
ENST00000479074.5:n.1093G=
ENST00000479730.5:n.1151G=
ENST00000483041.5:n.1204G=
ENST00000486063.5:n.1014G=
NM_000500.7:c.1035G=	NP_000491.4:p.Leu345=
NM_001128590.3:c.945G=	NP_001122062.3:p.Leu315=
XM_011514314.1:c.630G=	XP_011512616.1:p.Leu210=
NM_000500.9:c.1035G= MANE Select	NP_000491.4:p.Leu345=
NM_001368143.1:c.630G=	NP_001355072.1:p.Leu210=
NM_001368144.1:c.630G=	NP_001355073.1:p.Leu210=
NM_001128590.4:c.945G=	NP_001122062.3:p.Leu315=
NM_001368143.2:c.630G=	NP_001355072.1:p.Leu210=
NM_001368144.2:c.630G=	NP_001355073.1:p.Leu210=