Canonical Allele Identifier: CA1619399234
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040464C= , CM000668.2:g.32040464C= GRCh38
NC_000006.11:g.32008241C= , CM000668.1:g.32008241C= GRCh37
NC_000006.10:g.32116220C= NCBI36
NG_007941.2:g.7157C=
NG_008337.2:g.73911G=
NG_007941.3:g.7160C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.998C= MANE Select ENSP00000496625.1:p.Ser333=
ENST00000418967.6:c.998C= ENSP00000408860.2:p.Ser333=
ENST00000435122.3:c.908C= ENSP00000415043.2:p.Ser303=
ENST00000479074.5:n.1056C=
ENST00000479730.5:n.1114C=
ENST00000483041.5:n.1167C=
ENST00000486063.5:n.977C=
NM_000500.7:c.998C= NP_000491.4:p.Ser333=
NM_001128590.3:c.908C= NP_001122062.3:p.Ser303=
XM_011514314.1:c.593C= XP_011512616.1:p.Ser198=
NM_000500.9:c.998C= MANE Select NP_000491.4:p.Ser333=
NM_001368143.1:c.593C= NP_001355072.1:p.Ser198=
NM_001368144.1:c.593C= NP_001355073.1:p.Ser198=
NM_001128590.4:c.908C= NP_001122062.3:p.Ser303=
NM_001368143.2:c.593C= NP_001355072.1:p.Ser198=
NM_001368144.2:c.593C= NP_001355073.1:p.Ser198=