Canonical Allele Identifier: CA1619399615
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32041050C= , CM000668.2:g.32041050C= GRCh38
NC_000006.11:g.32008827C= , CM000668.1:g.32008827C= GRCh37
NC_000006.10:g.32116806C= NCBI36
NG_007941.2:g.7743C=
NG_008337.2:g.73325G=
NG_007941.3:g.7746C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1404C= MANE Select ENSP00000496625.1:p.Cys468=
ENST00000418967.6:c.1404C= ENSP00000408860.2:p.Cys468=
ENST00000435122.3:c.1314C= ENSP00000415043.2:p.Cys438=
ENST00000479074.5:n.1545C=
ENST00000479730.5:n.1520C=
ENST00000483041.5:n.1573C=
ENST00000486063.5:n.1383C=
NM_000500.7:c.1404C= NP_000491.4:p.Cys468=
NM_001128590.3:c.1314C= NP_001122062.3:p.Cys438=
XM_011514314.1:c.999C= XP_011512616.1:p.Cys333=
NM_000500.9:c.1404C= MANE Select NP_000491.4:p.Cys468=
NM_001368143.1:c.999C= NP_001355072.1:p.Cys333=
NM_001368144.1:c.999C= NP_001355073.1:p.Cys333=
NM_001128590.4:c.1314C= NP_001122062.3:p.Cys438=
NM_001368143.2:c.999C= NP_001355072.1:p.Cys333=
NM_001368144.2:c.999C= NP_001355073.1:p.Cys333=