Canonical Allele Identifier: CA1619397281
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040026T= , CM000668.2:g.32040026T= GRCh38
NC_000006.11:g.32007803T= , CM000668.1:g.32007803T= GRCh37
NC_000006.10:g.32115782T= NCBI36
NG_007941.2:g.6719T=
NG_008337.2:g.74349A=
NG_007941.3:g.6722T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.760T= MANE Select ENSP00000496625.1:p.Trp254=
ENST00000418967.6:c.760T= ENSP00000408860.2:p.Trp254=
ENST00000435122.3:c.670T= ENSP00000415043.2:p.Trp224=
ENST00000479074.5:n.818T=
ENST00000479730.5:n.876T=
ENST00000483041.5:n.929T=
ENST00000486063.5:n.918+191T=
NM_000500.7:c.760T= NP_000491.4:p.Trp254=
NM_001128590.3:c.670T= NP_001122062.3:p.Trp224=
XM_011514314.1:c.355T= XP_011512616.1:p.Trp119=
NM_000500.9:c.760T= MANE Select NP_000491.4:p.Trp254=
NM_001368143.1:c.355T= NP_001355072.1:p.Trp119=
NM_001368144.1:c.355T= NP_001355073.1:p.Trp119=
NM_001128590.4:c.670T= NP_001122062.3:p.Trp224=
NM_001368143.2:c.355T= NP_001355072.1:p.Trp119=
NM_001368144.2:c.355T= NP_001355073.1:p.Trp119=