Canonical Allele Identifier: CA1619396413
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038542G= , CM000668.2:g.32038542G= GRCh38
NC_000006.11:g.32006319G= , CM000668.1:g.32006319G= GRCh37
NC_000006.10:g.32114298G= NCBI36
NG_007941.2:g.5235G=
NG_007941.3:g.5238G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.120G= MANE Select ENSP00000496625.1:p.Leu40=
ENST00000418967.6:c.120G= ENSP00000408860.2:p.Leu40=
ENST00000435122.3:c.120G= ENSP00000415043.2:p.Leu40=
ENST00000466779.5:c.120G= ENSP00000417321.1:p.Leu40=
ENST00000469053.5:c.120G= ENSP00000418104.1:p.Leu40=
ENST00000471671.4:c.120G= ENSP00000418561.1:p.Leu40=
ENST00000478281.5:c.120G= ENSP00000419572.1:p.Leu40=
ENST00000479074.5:n.178G=
ENST00000479730.5:n.178G=
ENST00000480027.1:n.173G=
ENST00000483041.5:n.173G=
ENST00000486063.5:n.203G=
ENST00000488465.1:n.128G=
NM_000500.7:c.120G= NP_000491.4:p.Leu40=
NM_001128590.3:c.120G= NP_001122062.3:p.Leu40=
XM_011514314.1:c.-305G= XP_011512616.1:n.-305G=
NM_000500.9:c.120G= MANE Select NP_000491.4:p.Leu40=
NM_001368143.1:c.-305G= NP_001355072.1:n.-305G=
NM_001368144.1:c.-215G= NP_001355073.1:n.-215G=
NM_001128590.4:c.120G= NP_001122062.3:p.Leu40=
NM_001368143.2:c.-305G= NP_001355072.1:n.-305G=
NM_001368144.2:c.-215G= NP_001355073.1:n.-215G=