Canonical Allele Identifier: CA2678088777
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32039947-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039947C>A , CM000668.2:g.32039947C>A GRCh38
NC_000006.11:g.32007724C>A , CM000668.1:g.32007724C>A GRCh37
NC_000006.10:g.32115703C>A NCBI36
NG_007941.2:g.6640C>A
NG_008337.2:g.74428G>T
NG_007941.3:g.6643C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.739-58C>A MANE Select ENSP00000496625.1:n.739-58C>A
ENST00000418967.6:c.739-58C>A ENSP00000408860.2:n.739-58C>A
ENST00000435122.3:c.649-58C>A ENSP00000415043.2:n.649-58C>A
ENST00000462278.1:n.539C>A
ENST00000479074.5:n.797-58C>A
ENST00000479730.5:n.855-58C>A
ENST00000483041.5:n.908-58C>A
ENST00000486063.5:n.918+112C>A
NM_000500.7:c.739-58C>A NP_000491.4:n.739-58C>A
NM_001128590.3:c.649-58C>A NP_001122062.3:n.649-58C>A
XM_011514314.1:c.334-58C>A XP_011512616.1:n.334-58C>A
NM_000500.9:c.739-58C>A MANE Select NP_000491.4:n.739-58C>A
NM_001368143.1:c.334-58C>A NP_001355072.1:n.334-58C>A
NM_001368144.1:c.334-58C>A NP_001355073.1:n.334-58C>A
NM_001128590.4:c.649-58C>A NP_001122062.3:n.649-58C>A
NM_001368143.2:c.334-58C>A NP_001355072.1:n.334-58C>A
NM_001368144.2:c.334-58C>A NP_001355073.1:n.334-58C>A