Canonical Allele Identifier: CA1619399255

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040502C= , CM000668.2:g.32040502C=	GRCh38
NC_000006.11:g.32008279C= , CM000668.1:g.32008279C=	GRCh37
NC_000006.10:g.32116258C=	NCBI36
NG_007941.2:g.7195C=
NG_008337.2:g.73873G=
NG_007941.3:g.7198C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1036C= MANE Select	ENSP00000496625.1:p.Leu346=
ENST00000418967.6:c.1036C=	ENSP00000408860.2:p.Leu346=
ENST00000435122.3:c.946C=	ENSP00000415043.2:p.Leu316=
ENST00000479074.5:n.1094C=
ENST00000479730.5:n.1152C=
ENST00000483041.5:n.1205C=
ENST00000486063.5:n.1015C=
NM_000500.7:c.1036C=	NP_000491.4:p.Leu346=
NM_001128590.3:c.946C=	NP_001122062.3:p.Leu316=
XM_011514314.1:c.631C=	XP_011512616.1:p.Leu211=
NM_000500.9:c.1036C= MANE Select	NP_000491.4:p.Leu346=
NM_001368143.1:c.631C=	NP_001355072.1:p.Leu211=
NM_001368144.1:c.631C=	NP_001355073.1:p.Leu211=
NM_001128590.4:c.946C=	NP_001122062.3:p.Leu316=
NM_001368143.2:c.631C=	NP_001355072.1:p.Leu211=
NM_001368144.2:c.631C=	NP_001355073.1:p.Leu211=