Canonical Allele Identifier: CA1619397459
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040416G= , CM000668.2:g.32040416G= GRCh38
NC_000006.11:g.32008193G= , CM000668.1:g.32008193G= GRCh37
NC_000006.10:g.32116172G= NCBI36
NG_007941.2:g.7109G=
NG_008337.2:g.73959C=
NG_007941.3:g.7112G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.950G= MANE Select ENSP00000496625.1:p.Arg317=
ENST00000418967.6:c.950G= ENSP00000408860.2:p.Arg317=
ENST00000435122.3:c.860G= ENSP00000415043.2:p.Arg287=
ENST00000479074.5:n.1008G=
ENST00000479730.5:n.1066G=
ENST00000483041.5:n.1119G=
ENST00000486063.5:n.929G=
NM_000500.7:c.950G= NP_000491.4:p.Arg317=
NM_001128590.3:c.860G= NP_001122062.3:p.Arg287=
XM_011514314.1:c.545G= XP_011512616.1:p.Arg182=
NM_000500.9:c.950G= MANE Select NP_000491.4:p.Arg317=
NM_001368143.1:c.545G= NP_001355072.1:p.Arg182=
NM_001368144.1:c.545G= NP_001355073.1:p.Arg182=
NM_001128590.4:c.860G= NP_001122062.3:p.Arg287=
NM_001368143.2:c.545G= NP_001355072.1:p.Arg182=
NM_001368144.2:c.545G= NP_001355073.1:p.Arg182=