Canonical Allele Identifier: CA1619396511
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038756G= , CM000668.2:g.32038756G= GRCh38
NC_000006.11:g.32006533G= , CM000668.1:g.32006533G= GRCh37
NC_000006.10:g.32114512G= NCBI36
NG_007941.2:g.5449G=
NG_007941.3:g.5452G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.237G= MANE Select ENSP00000496625.1:p.Glu79=
ENST00000418967.6:c.237G= ENSP00000408860.2:p.Glu79=
ENST00000435122.3:c.202+132G= ENSP00000415043.2:n.202+132G=
ENST00000464325.5:n.174G=
ENST00000466779.5:c.237G= ENSP00000417321.1:p.Glu79=
ENST00000466879.5:n.6G=
ENST00000469053.5:c.202+132G= ENSP00000418104.1:n.202+132G=
ENST00000471671.4:c.237G= ENSP00000418561.1:p.Glu79=
ENST00000478281.5:c.237G= ENSP00000419572.1:p.Glu79=
ENST00000479074.5:n.295G=
ENST00000479730.5:n.392G=
ENST00000480027.1:n.290G=
ENST00000483041.5:n.387G=
ENST00000486063.5:n.417G=
ENST00000488465.1:n.245G=
NM_000500.7:c.237G= NP_000491.4:p.Glu79=
NM_001128590.3:c.202+132G= NP_001122062.3:n.202+132G=
XM_011514314.1:c.-188G= XP_011512616.1:n.-188G=
NM_000500.9:c.237G= MANE Select NP_000491.4:p.Glu79=
NM_001368143.1:c.-188G= NP_001355072.1:n.-188G=
NM_001368144.1:c.-133+132G= NP_001355073.1:n.-133+132G=
NM_001128590.4:c.202+132G= NP_001122062.3:n.202+132G=
NM_001368143.2:c.-188G= NP_001355072.1:n.-188G=
NM_001368144.2:c.-133+132G= NP_001355073.1:n.-133+132G=