Canonical Allele Identifier: CA363505256
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039807T>G , CM000668.2:g.32039807T>G GRCh38
NC_000006.11:g.32007584T>G , CM000668.1:g.32007584T>G GRCh37
NC_000006.10:g.32115563T>G NCBI36
NG_007941.2:g.6500T>G
NG_008337.2:g.74568A>C
NG_007941.3:g.6503T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.710T>G MANE Select ENSP00000496625.1:p.Ile237Ser
ENST00000418967.6:c.710T>G ENSP00000408860.2:p.Ile237Ser
ENST00000435122.3:c.620T>G ENSP00000415043.2:p.Ile207Ser
ENST00000462278.1:n.399T>G
ENST00000466779.5:c.*402T>G ENSP00000417321.1:n.*402T>G
ENST00000466879.5:n.761T>G
ENST00000479074.5:n.768T>G
ENST00000479730.5:n.826T>G
ENST00000483041.5:n.879T>G
ENST00000486063.5:n.890T>G
NM_000500.7:c.710T>G NP_000491.4:p.Ile237Ser
NM_001128590.3:c.620T>G NP_001122062.3:p.Ile207Ser
XM_011514314.1:c.305T>G XP_011512616.1:p.Ile102Ser
NM_000500.9:c.710T>G MANE Select NP_000491.4:p.Ile237Ser
NM_001368143.1:c.305T>G NP_001355072.1:p.Ile102Ser
NM_001368144.1:c.305T>G NP_001355073.1:p.Ile102Ser
NM_001128590.4:c.620T>G NP_001122062.3:p.Ile207Ser
NM_001368143.2:c.305T>G NP_001355072.1:p.Ile102Ser
NM_001368144.2:c.305T>G NP_001355073.1:p.Ile102Ser