Canonical Allele Identifier: CA1619397073
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039615A= , CM000668.2:g.32039615A= GRCh38
NC_000006.11:g.32007392A= , CM000668.1:g.32007392A= GRCh37
NC_000006.10:g.32115371A= NCBI36
NG_007941.2:g.6308A=
NG_008337.2:g.74760T=
NG_007941.3:g.6311A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.619A= MANE Select ENSP00000496625.1:p.Ile207=
ENST00000418967.6:c.619A= ENSP00000408860.2:p.Ile207=
ENST00000435122.3:c.529A= ENSP00000415043.2:p.Ile177=
ENST00000462278.1:n.207A=
ENST00000464325.5:n.540A=
ENST00000466779.5:c.*311A= ENSP00000417321.1:n.*311A=
ENST00000466879.5:n.670A=
ENST00000469053.5:c.*311A= ENSP00000418104.1:n.*311A=
ENST00000479074.5:n.677A=
ENST00000479730.5:n.735A=
ENST00000483041.5:n.788A=
ENST00000486063.5:n.799A=
NM_000500.7:c.619A= NP_000491.4:p.Ile207=
NM_001128590.3:c.529A= NP_001122062.3:p.Ile177=
XM_011514314.1:c.214A= XP_011512616.1:p.Ile72=
NM_000500.9:c.619A= MANE Select NP_000491.4:p.Ile207=
NM_001368143.1:c.214A= NP_001355072.1:p.Ile72=
NM_001368144.1:c.214A= NP_001355073.1:p.Ile72=
NM_001128590.4:c.529A= NP_001122062.3:p.Ile177=
NM_001368143.2:c.214A= NP_001355072.1:p.Ile72=
NM_001368144.2:c.214A= NP_001355073.1:p.Ile72=