Canonical Allele Identifier: CA363505117
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039795A>T , CM000668.2:g.32039795A>T GRCh38
NC_000006.11:g.32007572A>T , CM000668.1:g.32007572A>T GRCh37
NC_000006.10:g.32115551A>T NCBI36
NG_007941.2:g.6488A>T
NG_008337.2:g.74580T>A
NG_007941.3:g.6491A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.698A>T MANE Select ENSP00000496625.1:p.Lys233Met
ENST00000418967.6:c.698A>T ENSP00000408860.2:p.Lys233Met
ENST00000435122.3:c.608A>T ENSP00000415043.2:p.Lys203Met
ENST00000462278.1:n.387A>T
ENST00000466779.5:c.*390A>T ENSP00000417321.1:n.*390A>T
ENST00000466879.5:n.749A>T
ENST00000479074.5:n.756A>T
ENST00000479730.5:n.814A>T
ENST00000483041.5:n.867A>T
ENST00000486063.5:n.878A>T
NM_000500.7:c.698A>T NP_000491.4:p.Lys233Met
NM_001128590.3:c.608A>T NP_001122062.3:p.Lys203Met
XM_011514314.1:c.293A>T XP_011512616.1:p.Lys98Met
NM_000500.9:c.698A>T MANE Select NP_000491.4:p.Lys233Met
NM_001368143.1:c.293A>T NP_001355072.1:p.Lys98Met
NM_001368144.1:c.293A>T NP_001355073.1:p.Lys98Met
NM_001128590.4:c.608A>T NP_001122062.3:p.Lys203Met
NM_001368143.2:c.293A>T NP_001355072.1:p.Lys98Met
NM_001368144.2:c.293A>T NP_001355073.1:p.Lys98Met