Canonical Allele Identifier: CA1619396431
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038566T= , CM000668.2:g.32038566T= GRCh38
NC_000006.11:g.32006343T= , CM000668.1:g.32006343T= GRCh37
NC_000006.10:g.32114322T= NCBI36
NG_007941.2:g.5259T=
NG_007941.3:g.5262T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.144T= MANE Select ENSP00000496625.1:p.Tyr48=
ENST00000418967.6:c.144T= ENSP00000408860.2:p.Tyr48=
ENST00000435122.3:c.144T= ENSP00000415043.2:p.Tyr48=
ENST00000466779.5:c.144T= ENSP00000417321.1:p.Tyr48=
ENST00000469053.5:c.144T= ENSP00000418104.1:p.Tyr48=
ENST00000471671.4:c.144T= ENSP00000418561.1:p.Tyr48=
ENST00000478281.5:c.144T= ENSP00000419572.1:p.Tyr48=
ENST00000479074.5:n.202T=
ENST00000479730.5:n.202T=
ENST00000480027.1:n.197T=
ENST00000483041.5:n.197T=
ENST00000486063.5:n.227T=
ENST00000488465.1:n.152T=
NM_000500.7:c.144T= NP_000491.4:p.Tyr48=
NM_001128590.3:c.144T= NP_001122062.3:p.Tyr48=
XM_011514314.1:c.-281T= XP_011512616.1:n.-281T=
NM_000500.9:c.144T= MANE Select NP_000491.4:p.Tyr48=
NM_001368143.1:c.-281T= NP_001355072.1:n.-281T=
NM_001368144.1:c.-191T= NP_001355073.1:n.-191T=
NM_001128590.4:c.144T= NP_001122062.3:p.Tyr48=
NM_001368143.2:c.-281T= NP_001355072.1:n.-281T=
NM_001368144.2:c.-191T= NP_001355073.1:n.-191T=