Canonical Allele Identifier: CA363503731

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776119590
• MyVariant Identifiers: chr6:g.32007363A>C (hg19) ; chr6:g.32039586A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039586A>C , CM000668.2:g.32039586A>C	GRCh38
NC_000006.11:g.32007363A>C , CM000668.1:g.32007363A>C	GRCh37
NC_000006.10:g.32115342A>C	NCBI36
NG_007941.2:g.6279A>C
NG_008337.2:g.74789T>G
NG_007941.3:g.6282A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.590A>C MANE Select	ENSP00000496625.1:p.Glu197Ala
ENST00000418967.6:c.590A>C	ENSP00000408860.2:p.Glu197Ala
ENST00000435122.3:c.500A>C	ENSP00000415043.2:p.Glu167Ala
ENST00000462278.1:n.178A>C
ENST00000464325.5:n.511A>C
ENST00000466779.5:c.*282A>C	ENSP00000417321.1:n.*282A>C
ENST00000466879.5:n.641A>C
ENST00000469053.5:c.*282A>C	ENSP00000418104.1:n.*282A>C
ENST00000471671.4:c.551A>C	ENSP00000418561.1:p.Glu184Ala
ENST00000479074.5:n.648A>C
ENST00000479730.5:n.706A>C
ENST00000483041.5:n.759A>C
ENST00000486063.5:n.770A>C
NM_000500.7:c.590A>C	NP_000491.4:p.Glu197Ala
NM_001128590.3:c.500A>C	NP_001122062.3:p.Glu167Ala
XM_011514314.1:c.185A>C	XP_011512616.1:p.Glu62Ala
NM_000500.9:c.590A>C MANE Select	NP_000491.4:p.Glu197Ala
NM_001368143.1:c.185A>C	NP_001355072.1:p.Glu62Ala
NM_001368144.1:c.185A>C	NP_001355073.1:p.Glu62Ala
NM_001128590.4:c.500A>C	NP_001122062.3:p.Glu167Ala
NM_001368143.2:c.185A>C	NP_001355072.1:p.Glu62Ala
NM_001368144.2:c.185A>C	NP_001355073.1:p.Glu62Ala