Canonical Allele Identifier: CA363499249
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038571T>A , CM000668.2:g.32038571T>A GRCh38
NC_000006.11:g.32006348T>A , CM000668.1:g.32006348T>A GRCh37
NC_000006.10:g.32114327T>A NCBI36
NG_007941.2:g.5264T>A
NG_007941.3:g.5267T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.149T>A MANE Select ENSP00000496625.1:p.Leu50His
ENST00000418967.6:c.149T>A ENSP00000408860.2:p.Leu50His
ENST00000435122.3:c.149T>A ENSP00000415043.2:p.Leu50His
ENST00000466779.5:c.149T>A ENSP00000417321.1:p.Leu50His
ENST00000469053.5:c.149T>A ENSP00000418104.1:p.Leu50His
ENST00000471671.4:c.149T>A ENSP00000418561.1:p.Leu50His
ENST00000478281.5:c.149T>A ENSP00000419572.1:p.Leu50His
ENST00000479074.5:n.207T>A
ENST00000479730.5:n.207T>A
ENST00000480027.1:n.202T>A
ENST00000483041.5:n.202T>A
ENST00000486063.5:n.232T>A
ENST00000488465.1:n.157T>A
NM_000500.7:c.149T>A NP_000491.4:p.Leu50His
NM_001128590.3:c.149T>A NP_001122062.3:p.Leu50His
XM_011514314.1:c.-276T>A XP_011512616.1:n.-276T>A
NM_000500.9:c.149T>A MANE Select NP_000491.4:p.Leu50His
NM_001368143.1:c.-276T>A NP_001355072.1:n.-276T>A
NM_001368144.1:c.-186T>A NP_001355073.1:n.-186T>A
NM_001128590.4:c.149T>A NP_001122062.3:p.Leu50His
NM_001368143.2:c.-276T>A NP_001355072.1:n.-276T>A
NM_001368144.2:c.-186T>A NP_001355073.1:n.-186T>A