Canonical Allele Identifier: CA363500619
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32039088-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039088C>A , CM000668.2:g.32039088C>A GRCh38
NC_000006.11:g.32006865C>A , CM000668.1:g.32006865C>A GRCh37
NC_000006.10:g.32114844C>A NCBI36
NG_007941.2:g.5781C>A
NG_007941.3:g.5784C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.293-6C>A MANE Select ENSP00000496625.1:n.293-6C>A
ENST00000418967.6:c.293-6C>A ENSP00000408860.2:n.293-6C>A
ENST00000435122.3:c.203-6C>A ENSP00000415043.2:n.203-6C>A
ENST00000464325.5:n.230-22C>A
ENST00000466779.5:c.306C>A ENSP00000417321.1:p.Ser102=
ENST00000466879.5:n.338C>A
ENST00000469053.5:c.216C>A ENSP00000418104.1:p.Ser72=
ENST00000471671.4:c.293-6C>A ENSP00000418561.1:n.293-6C>A
ENST00000478281.5:c.320C>A ENSP00000419572.1:p.Pro107His
ENST00000479074.5:n.351-6C>A
ENST00000479730.5:n.448-6C>A
ENST00000480027.1:n.622C>A
ENST00000483041.5:n.456C>A
ENST00000486063.5:n.473-6C>A
ENST00000488465.1:n.301-6C>A
NM_000500.7:c.293-6C>A NP_000491.4:n.293-6C>A
NM_001128590.3:c.203-6C>A NP_001122062.3:n.203-6C>A
XM_011514314.1:c.-119C>A XP_011512616.1:n.-119C>A
NM_000500.9:c.293-6C>A MANE Select NP_000491.4:n.293-6C>A
NM_001368143.1:c.-119C>A NP_001355072.1:n.-119C>A
NM_001368144.1:c.-119C>A NP_001355073.1:n.-119C>A
NM_001128590.4:c.203-6C>A NP_001122062.3:n.203-6C>A
NM_001368143.2:c.-119C>A NP_001355072.1:n.-119C>A
NM_001368144.2:c.-119C>A NP_001355073.1:n.-119C>A