Canonical Allele Identifier: CA1619397056
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.590A= MANE Select ENSP00000496625.1:p.Glu197=
ENST00000418967.6:c.590A= ENSP00000408860.2:p.Glu197=
ENST00000435122.3:c.500A= ENSP00000415043.2:p.Glu167=
ENST00000462278.1:n.178A=
ENST00000464325.5:n.511A=
ENST00000466779.5:c.*282A= ENSP00000417321.1:n.*282A=
ENST00000466879.5:n.641A=
ENST00000469053.5:c.*282A= ENSP00000418104.1:n.*282A=
ENST00000471671.4:c.551A= ENSP00000418561.1:p.Glu184=
ENST00000479074.5:n.648A=
ENST00000479730.5:n.706A=
ENST00000483041.5:n.759A=
ENST00000486063.5:n.770A=
NM_000500.7:c.590A= NP_000491.4:p.Glu197=
NM_001128590.3:c.500A= NP_001122062.3:p.Glu167=
XM_011514314.1:c.185A= XP_011512616.1:p.Glu62=
NM_000500.9:c.590A= MANE Select NP_000491.4:p.Glu197=
NM_001368143.1:c.185A= NP_001355072.1:p.Glu62=
NM_001368144.1:c.185A= NP_001355073.1:p.Glu62=
NM_001128590.4:c.500A= NP_001122062.3:p.Glu167=
NM_001368143.2:c.185A= NP_001355072.1:p.Glu62=
NM_001368144.2:c.185A= NP_001355073.1:p.Glu62=