Canonical Allele Identifier: CA363507498
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040187T>A , CM000668.2:g.32040187T>A GRCh38
NC_000006.11:g.32007964T>A , CM000668.1:g.32007964T>A GRCh37
NC_000006.10:g.32115943T>A NCBI36
NG_007941.2:g.6880T>A
NG_008337.2:g.74188A>T
NG_007941.3:g.6883T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.921T>A MANE Select ENSP00000496625.1:p.Phe307Leu
ENST00000418967.6:c.921T>A ENSP00000408860.2:p.Phe307Leu
ENST00000435122.3:c.831T>A ENSP00000415043.2:p.Phe277Leu
ENST00000479074.5:n.979T>A
ENST00000479730.5:n.1037T>A
ENST00000483041.5:n.1090T>A
ENST00000486063.5:n.919-219T>A
NM_000500.7:c.921T>A NP_000491.4:p.Phe307Leu
NM_001128590.3:c.831T>A NP_001122062.3:p.Phe277Leu
XM_011514314.1:c.516T>A XP_011512616.1:p.Phe172Leu
NM_000500.9:c.921T>A MANE Select NP_000491.4:p.Phe307Leu
NM_001368143.1:c.516T>A NP_001355072.1:p.Phe172Leu
NM_001368144.1:c.516T>A NP_001355073.1:p.Phe172Leu
NM_001128590.4:c.831T>A NP_001122062.3:p.Phe277Leu
NM_001368143.2:c.516T>A NP_001355072.1:p.Phe172Leu
NM_001368144.2:c.516T>A NP_001355073.1:p.Phe172Leu