Canonical Allele Identifier: CA1619396855
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039266A= , CM000668.2:g.32039266A= GRCh38
NC_000006.11:g.32007043A= , CM000668.1:g.32007043A= GRCh37
NC_000006.10:g.32115022A= NCBI36
NG_007941.2:g.5959A=
NG_008337.2:g.75109T=
NG_007941.3:g.5962A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.447+18A= MANE Select ENSP00000496625.1:n.447+18A=
ENST00000418967.6:c.447+18A= ENSP00000408860.2:n.447+18A=
ENST00000435122.3:c.357+18A= ENSP00000415043.2:n.357+18A=
ENST00000462278.1:n.35+18A=
ENST00000464325.5:n.368+18A=
ENST00000466779.5:c.*139+18A= ENSP00000417321.1:n.*139+18A=
ENST00000466879.5:n.498+18A=
ENST00000469053.5:c.*139+18A= ENSP00000418104.1:n.*139+18A=
ENST00000471671.4:c.447+18A= ENSP00000418561.1:n.447+18A=
ENST00000478281.5:c.480+18A= ENSP00000419572.1:n.480+18A=
ENST00000479074.5:n.505+18A=
ENST00000479730.5:n.602+18A=
ENST00000483041.5:n.616+18A=
ENST00000486063.5:n.627+18A=
ENST00000488465.1:n.455+18A=
NM_000500.7:c.447+18A= NP_000491.4:n.447+18A=
NM_001128590.3:c.357+18A= NP_001122062.3:n.357+18A=
XM_011514314.1:c.42+18A= XP_011512616.1:n.42+18A=
NM_000500.9:c.447+18A= MANE Select NP_000491.4:n.447+18A=
NM_001368143.1:c.42+18A= NP_001355072.1:n.42+18A=
NM_001368144.1:c.42+18A= NP_001355073.1:n.42+18A=
NM_001128590.4:c.357+18A= NP_001122062.3:n.357+18A=
NM_001368143.2:c.42+18A= NP_001355072.1:n.42+18A=
NM_001368144.2:c.42+18A= NP_001355073.1:n.42+18A=