Canonical Allele Identifier: CA1619396830
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039207A= , CM000668.2:g.32039207A= GRCh38
NC_000006.11:g.32006984A= , CM000668.1:g.32006984A= GRCh37
NC_000006.10:g.32114963A= NCBI36
NG_007941.2:g.5900A=
NG_008337.2:g.75168T=
NG_007941.3:g.5903A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.406A= MANE Select ENSP00000496625.1:p.Met136=
ENST00000418967.6:c.406A= ENSP00000408860.2:p.Met136=
ENST00000435122.3:c.316A= ENSP00000415043.2:p.Met106=
ENST00000464325.5:n.327A=
ENST00000466779.5:c.*98A= ENSP00000417321.1:n.*98A=
ENST00000466879.5:n.457A=
ENST00000469053.5:c.*98A= ENSP00000418104.1:n.*98A=
ENST00000471671.4:c.406A= ENSP00000418561.1:p.Met136=
ENST00000478281.5:c.439A= ENSP00000419572.1:p.Met147=
ENST00000479074.5:n.464A=
ENST00000479730.5:n.561A=
ENST00000483041.5:n.575A=
ENST00000486063.5:n.586A=
ENST00000488465.1:n.414A=
NM_000500.7:c.406A= NP_000491.4:p.Met136=
NM_001128590.3:c.316A= NP_001122062.3:p.Met106=
XM_011514314.1:c.1A= XP_011512616.1:p.Met1=
NM_000500.9:c.406A= MANE Select NP_000491.4:p.Met136=
NM_001368143.1:c.1A= NP_001355072.1:p.Met1=
NM_001368144.1:c.1A= NP_001355073.1:p.Met1=
NM_001128590.4:c.316A= NP_001122062.3:p.Met106=
NM_001368143.2:c.1A= NP_001355072.1:p.Met1=
NM_001368144.2:c.1A= NP_001355073.1:p.Met1=