Canonical Allele Identifier: CA1619397183
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039827C= , CM000668.2:g.32039827C= GRCh38
NC_000006.11:g.32007604C= , CM000668.1:g.32007604C= GRCh37
NC_000006.10:g.32115583C= NCBI36
NG_007941.2:g.6520C=
NG_008337.2:g.74548G=
NG_007941.3:g.6523C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.730C= MANE Select ENSP00000496625.1:p.Gln244=
ENST00000418967.6:c.730C= ENSP00000408860.2:p.Gln244=
ENST00000435122.3:c.640C= ENSP00000415043.2:p.Gln214=
ENST00000462278.1:n.419C=
ENST00000479074.5:n.788C=
ENST00000479730.5:n.846C=
ENST00000483041.5:n.899C=
ENST00000486063.5:n.910C=
NM_000500.7:c.730C= NP_000491.4:p.Gln244=
NM_001128590.3:c.640C= NP_001122062.3:p.Gln214=
XM_011514314.1:c.325C= XP_011512616.1:p.Gln109=
NM_000500.9:c.730C= MANE Select NP_000491.4:p.Gln244=
NM_001368143.1:c.325C= NP_001355072.1:p.Gln109=
NM_001368144.1:c.325C= NP_001355073.1:p.Gln109=
NM_001128590.4:c.640C= NP_001122062.3:p.Gln214=
NM_001368143.2:c.325C= NP_001355072.1:p.Gln109=
NM_001368144.2:c.325C= NP_001355073.1:p.Gln109=