Canonical Allele Identifier: CA1619397457
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040414G= , CM000668.2:g.32040414G= GRCh38
NC_000006.11:g.32008191G= , CM000668.1:g.32008191G= GRCh37
NC_000006.10:g.32116170G= NCBI36
NG_007941.2:g.7107G=
NG_008337.2:g.73961C=
NG_007941.3:g.7110G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.948G= MANE Select ENSP00000496625.1:p.Gln316=
ENST00000418967.6:c.948G= ENSP00000408860.2:p.Gln316=
ENST00000435122.3:c.858G= ENSP00000415043.2:p.Gln286=
ENST00000479074.5:n.1006G=
ENST00000479730.5:n.1064G=
ENST00000483041.5:n.1117G=
ENST00000486063.5:n.927G=
NM_000500.7:c.948G= NP_000491.4:p.Gln316=
NM_001128590.3:c.858G= NP_001122062.3:p.Gln286=
XM_011514314.1:c.543G= XP_011512616.1:p.Gln181=
NM_000500.9:c.948G= MANE Select NP_000491.4:p.Gln316=
NM_001368143.1:c.543G= NP_001355072.1:p.Gln181=
NM_001368144.1:c.543G= NP_001355073.1:p.Gln181=
NM_001128590.4:c.858G= NP_001122062.3:p.Gln286=
NM_001368143.2:c.543G= NP_001355072.1:p.Gln181=
NM_001368144.2:c.543G= NP_001355073.1:p.Gln181=