Canonical Allele Identifier: CA358444
Gene: CYP21A2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs111647200

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
NM_000500.7:c.710T>A VV NP_000491.4:p.Ile237Asn
NM_001128590.3:c.620T>A VV NP_001122062.3:p.Ile207Asn
XM_011514314.1:c.305T>A XP_011512616.1:p.Ile102Asn
NM_000500.9:c.710T>A VV
ENST00000418967.6:c.710T>A ENSP00000408860.2:p.Ile237Asn
ENST00000435122.3:c.620T>A ENSP00000415043.2:p.Ile207Asn
ENST00000462278.1:n.399T>A
ENST00000466779.5:c.*402T>A ENSP00000417321.1:p.=
ENST00000466879.5:n.761T>A
ENST00000479074.5:n.768T>A
ENST00000479730.5:n.826T>A
ENST00000483041.5:n.879T>A
ENST00000486063.5:n.890T>A