Canonical Allele Identifier: CA1619397325
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040126T= , CM000668.2:g.32040126T= GRCh38
NC_000006.11:g.32007903T= , CM000668.1:g.32007903T= GRCh37
NC_000006.10:g.32115882T= NCBI36
NG_007941.2:g.6819T=
NG_008337.2:g.74249A=
NG_007941.3:g.6822T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.860T= MANE Select ENSP00000496625.1:p.Val287=
ENST00000418967.6:c.860T= ENSP00000408860.2:p.Val287=
ENST00000435122.3:c.770T= ENSP00000415043.2:p.Val257=
ENST00000479074.5:n.918T=
ENST00000479730.5:n.976T=
ENST00000483041.5:n.1029T=
ENST00000486063.5:n.919-280T=
NM_000500.7:c.860T= NP_000491.4:p.Val287=
NM_001128590.3:c.770T= NP_001122062.3:p.Val257=
XM_011514314.1:c.455T= XP_011512616.1:p.Val152=
NM_000500.9:c.860T= MANE Select NP_000491.4:p.Val287=
NM_001368143.1:c.455T= NP_001355072.1:p.Val152=
NM_001368144.1:c.455T= NP_001355073.1:p.Val152=
NM_001128590.4:c.770T= NP_001122062.3:p.Val257=
NM_001368143.2:c.455T= NP_001355072.1:p.Val152=
NM_001368144.2:c.455T= NP_001355073.1:p.Val152=