Canonical Allele Identifier: CA1619397078
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039629C= , CM000668.2:g.32039629C= GRCh38
NC_000006.11:g.32007406C= , CM000668.1:g.32007406C= GRCh37
NC_000006.10:g.32115385C= NCBI36
NG_007941.2:g.6322C=
NG_008337.2:g.74746G=
NG_007941.3:g.6325C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.633C= MANE Select ENSP00000496625.1:p.Asp211=
ENST00000418967.6:c.633C= ENSP00000408860.2:p.Asp211=
ENST00000435122.3:c.543C= ENSP00000415043.2:p.Asp181=
ENST00000462278.1:n.221C=
ENST00000464325.5:n.554C=
ENST00000466779.5:c.*325C= ENSP00000417321.1:n.*325C=
ENST00000466879.5:n.684C=
ENST00000469053.5:c.*325C= ENSP00000418104.1:n.*325C=
ENST00000479074.5:n.691C=
ENST00000479730.5:n.749C=
ENST00000483041.5:n.802C=
ENST00000486063.5:n.813C=
NM_000500.7:c.633C= NP_000491.4:p.Asp211=
NM_001128590.3:c.543C= NP_001122062.3:p.Asp181=
XM_011514314.1:c.228C= XP_011512616.1:p.Asp76=
NM_000500.9:c.633C= MANE Select NP_000491.4:p.Asp211=
NM_001368143.1:c.228C= NP_001355072.1:p.Asp76=
NM_001368144.1:c.228C= NP_001355073.1:p.Asp76=
NM_001128590.4:c.543C= NP_001122062.3:p.Asp181=
NM_001368143.2:c.228C= NP_001355072.1:p.Asp76=
NM_001368144.2:c.228C= NP_001355073.1:p.Asp76=