Canonical Allele Identifier: CA1619396933
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039388C= , CM000668.2:g.32039388C= GRCh38
NC_000006.11:g.32007165C= , CM000668.1:g.32007165C= GRCh37
NC_000006.10:g.32115144C= NCBI36
NG_007941.2:g.6081C=
NG_008337.2:g.74987G=
NG_007941.3:g.6084C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.480C= MANE Select ENSP00000496625.1:p.Ala160=
ENST00000418967.6:c.480C= ENSP00000408860.2:p.Ala160=
ENST00000435122.3:c.390C= ENSP00000415043.2:p.Ala130=
ENST00000462278.1:n.68C=
ENST00000464325.5:n.401C=
ENST00000466779.5:c.*172C= ENSP00000417321.1:n.*172C=
ENST00000466879.5:n.531C=
ENST00000469053.5:c.*172C= ENSP00000418104.1:n.*172C=
ENST00000471671.4:c.480C= ENSP00000418561.1:p.Ala160=
ENST00000478281.5:c.513C= ENSP00000419572.1:p.Ala171=
ENST00000479074.5:n.538C=
ENST00000479730.5:n.635C=
ENST00000483041.5:n.649C=
ENST00000486063.5:n.660C=
ENST00000488465.1:n.488C=
NM_000500.7:c.480C= NP_000491.4:p.Ala160=
NM_001128590.3:c.390C= NP_001122062.3:p.Ala130=
XM_011514314.1:c.75C= XP_011512616.1:p.Ala25=
NM_000500.9:c.480C= MANE Select NP_000491.4:p.Ala160=
NM_001368143.1:c.75C= NP_001355072.1:p.Ala25=
NM_001368144.1:c.75C= NP_001355073.1:p.Ala25=
NM_001128590.4:c.390C= NP_001122062.3:p.Ala130=
NM_001368143.2:c.75C= NP_001355072.1:p.Ala25=
NM_001368144.2:c.75C= NP_001355073.1:p.Ala25=