Canonical Allele Identifier: CA1619396847
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039248G= , CM000668.2:g.32039248G= GRCh38
NC_000006.11:g.32007025G= , CM000668.1:g.32007025G= GRCh37
NC_000006.10:g.32115004G= NCBI36
NG_007941.2:g.5941G=
NG_008337.2:g.75127C=
NG_007941.3:g.5944G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.447G= MANE Select ENSP00000496625.1:p.Glu149=
ENST00000418967.6:c.447G= ENSP00000408860.2:p.Glu149=
ENST00000435122.3:c.357G= ENSP00000415043.2:p.Glu119=
ENST00000462278.1:n.35G=
ENST00000464325.5:n.368G=
ENST00000466779.5:c.*139G= ENSP00000417321.1:n.*139G=
ENST00000466879.5:n.498G=
ENST00000469053.5:c.*139G= ENSP00000418104.1:n.*139G=
ENST00000471671.4:c.447G= ENSP00000418561.1:p.Glu149=
ENST00000478281.5:c.480G= ENSP00000419572.1:p.Glu160=
ENST00000479074.5:n.505G=
ENST00000479730.5:n.602G=
ENST00000483041.5:n.616G=
ENST00000486063.5:n.627G=
ENST00000488465.1:n.455G=
NM_000500.7:c.447G= NP_000491.4:p.Glu149=
NM_001128590.3:c.357G= NP_001122062.3:p.Glu119=
XM_011514314.1:c.42G= XP_011512616.1:p.Glu14=
NM_000500.9:c.447G= MANE Select NP_000491.4:p.Glu149=
NM_001368143.1:c.42G= NP_001355072.1:p.Glu14=
NM_001368144.1:c.42G= NP_001355073.1:p.Glu14=
NM_001128590.4:c.357G= NP_001122062.3:p.Glu119=
NM_001368143.2:c.42G= NP_001355072.1:p.Glu14=
NM_001368144.2:c.42G= NP_001355073.1:p.Glu14=