Canonical Allele Identifier: CA363500599
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32039082-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039082C>A , CM000668.2:g.32039082C>A GRCh38
NC_000006.11:g.32006859C>A , CM000668.1:g.32006859C>A GRCh37
NC_000006.10:g.32114838C>A NCBI36
NG_007941.2:g.5775C>A
NG_007941.3:g.5778C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.293-12C>A MANE Select ENSP00000496625.1:n.293-12C>A
ENST00000418967.6:c.293-12C>A ENSP00000408860.2:n.293-12C>A
ENST00000435122.3:c.203-12C>A ENSP00000415043.2:n.203-12C>A
ENST00000464325.5:n.230-28C>A
ENST00000466779.5:c.300C>A ENSP00000417321.1:p.Thr100=
ENST00000466879.5:n.332C>A
ENST00000469053.5:c.210C>A ENSP00000418104.1:p.Thr70=
ENST00000471671.4:c.293-12C>A ENSP00000418561.1:n.293-12C>A
ENST00000478281.5:c.314C>A ENSP00000419572.1:p.Pro105His
ENST00000479074.5:n.351-12C>A
ENST00000479730.5:n.448-12C>A
ENST00000480027.1:n.616C>A
ENST00000483041.5:n.450C>A
ENST00000486063.5:n.473-12C>A
ENST00000488465.1:n.301-12C>A
NM_000500.7:c.293-12C>A NP_000491.4:n.293-12C>A
NM_001128590.3:c.203-12C>A NP_001122062.3:n.203-12C>A
XM_011514314.1:c.-125C>A XP_011512616.1:n.-125C>A
NM_000500.9:c.293-12C>A MANE Select NP_000491.4:n.293-12C>A
NM_001368143.1:c.-125C>A NP_001355072.1:n.-125C>A
NM_001368144.1:c.-125C>A NP_001355073.1:n.-125C>A
NM_001128590.4:c.203-12C>A NP_001122062.3:n.203-12C>A
NM_001368143.2:c.-125C>A NP_001355072.1:n.-125C>A
NM_001368144.2:c.-125C>A NP_001355073.1:n.-125C>A