Canonical Allele Identifier: CA1619396814
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039175G= , CM000668.2:g.32039175G= GRCh38
NC_000006.11:g.32006952G= , CM000668.1:g.32006952G= GRCh37
NC_000006.10:g.32114931G= NCBI36
NG_007941.2:g.5868G=
NG_008337.2:g.75200C=
NG_007941.3:g.5871G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.374G= MANE Select ENSP00000496625.1:p.Arg125=
ENST00000418967.6:c.374G= ENSP00000408860.2:p.Arg125=
ENST00000435122.3:c.284G= ENSP00000415043.2:p.Arg95=
ENST00000464325.5:n.295G=
ENST00000466779.5:c.*66G= ENSP00000417321.1:n.*66G=
ENST00000466879.5:n.425G=
ENST00000469053.5:c.*66G= ENSP00000418104.1:n.*66G=
ENST00000471671.4:c.374G= ENSP00000418561.1:p.Arg125=
ENST00000478281.5:c.407G= ENSP00000419572.1:p.Arg136=
ENST00000479074.5:n.432G=
ENST00000479730.5:n.529G=
ENST00000483041.5:n.543G=
ENST00000486063.5:n.554G=
ENST00000488465.1:n.382G=
NM_000500.7:c.374G= NP_000491.4:p.Arg125=
NM_001128590.3:c.284G= NP_001122062.3:p.Arg95=
XM_011514314.1:c.-32G= XP_011512616.1:n.-32G=
NM_000500.9:c.374G= MANE Select NP_000491.4:p.Arg125=
NM_001368143.1:c.-32G= NP_001355072.1:n.-32G=
NM_001368144.1:c.-32G= NP_001355073.1:n.-32G=
NM_001128590.4:c.284G= NP_001122062.3:p.Arg95=
NM_001368143.2:c.-32G= NP_001355072.1:n.-32G=
NM_001368144.2:c.-32G= NP_001355073.1:n.-32G=