Canonical Allele Identifier: CA1619396928
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039379C= , CM000668.2:g.32039379C= GRCh38
NC_000006.11:g.32007156C= , CM000668.1:g.32007156C= GRCh37
NC_000006.10:g.32115135C= NCBI36
NG_007941.2:g.6072C=
NG_008337.2:g.74996G=
NG_007941.3:g.6075C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.471C= MANE Select ENSP00000496625.1:p.Thr157=
ENST00000418967.6:c.471C= ENSP00000408860.2:p.Thr157=
ENST00000435122.3:c.381C= ENSP00000415043.2:p.Thr127=
ENST00000462278.1:n.59C=
ENST00000464325.5:n.392C=
ENST00000466779.5:c.*163C= ENSP00000417321.1:n.*163C=
ENST00000466879.5:n.522C=
ENST00000469053.5:c.*163C= ENSP00000418104.1:n.*163C=
ENST00000471671.4:c.471C= ENSP00000418561.1:p.Thr157=
ENST00000478281.5:c.504C= ENSP00000419572.1:p.Thr168=
ENST00000479074.5:n.529C=
ENST00000479730.5:n.626C=
ENST00000483041.5:n.640C=
ENST00000486063.5:n.651C=
ENST00000488465.1:n.479C=
NM_000500.7:c.471C= NP_000491.4:p.Thr157=
NM_001128590.3:c.381C= NP_001122062.3:p.Thr127=
XM_011514314.1:c.66C= XP_011512616.1:p.Thr22=
NM_000500.9:c.471C= MANE Select NP_000491.4:p.Thr157=
NM_001368143.1:c.66C= NP_001355072.1:p.Thr22=
NM_001368144.1:c.66C= NP_001355073.1:p.Thr22=
NM_001128590.4:c.381C= NP_001122062.3:p.Thr127=
NM_001368143.2:c.66C= NP_001355072.1:p.Thr22=
NM_001368144.2:c.66C= NP_001355073.1:p.Thr22=