Canonical Allele Identifier: CA363498934
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038520T>A , CM000668.2:g.32038520T>A GRCh38
NC_000006.11:g.32006297T>A , CM000668.1:g.32006297T>A GRCh37
NC_000006.10:g.32114276T>A NCBI36
NG_007941.2:g.5213T>A
NG_007941.3:g.5216T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.98T>A MANE Select ENSP00000496625.1:p.Leu33His
ENST00000418967.6:c.98T>A ENSP00000408860.2:p.Leu33His
ENST00000435122.3:c.98T>A ENSP00000415043.2:p.Leu33His
ENST00000466779.5:c.98T>A ENSP00000417321.1:p.Leu33His
ENST00000469053.5:c.98T>A ENSP00000418104.1:p.Leu33His
ENST00000471671.4:c.98T>A ENSP00000418561.1:p.Leu33His
ENST00000478281.5:c.98T>A ENSP00000419572.1:p.Leu33His
ENST00000479074.5:n.156T>A
ENST00000479730.5:n.156T>A
ENST00000480027.1:n.151T>A
ENST00000483041.5:n.151T>A
ENST00000486063.5:n.181T>A
ENST00000488465.1:n.106T>A
NM_000500.7:c.98T>A NP_000491.4:p.Leu33His
NM_001128590.3:c.98T>A NP_001122062.3:p.Leu33His
XM_011514314.1:c.-327T>A XP_011512616.1:n.-327T>A
NM_000500.9:c.98T>A MANE Select NP_000491.4:p.Leu33His
NM_001368143.1:c.-327T>A NP_001355072.1:n.-327T>A
NM_001368144.1:c.-237T>A NP_001355073.1:n.-237T>A
NM_001128590.4:c.98T>A NP_001122062.3:p.Leu33His
NM_001368143.2:c.-327T>A NP_001355072.1:n.-327T>A
NM_001368144.2:c.-237T>A NP_001355073.1:n.-237T>A