Canonical Allele Identifier: CA1619396801
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039155A= , CM000668.2:g.32039155A= GRCh38
NC_000006.11:g.32006932A= , CM000668.1:g.32006932A= GRCh37
NC_000006.10:g.32114911A= NCBI36
NG_007941.2:g.5848A=
NG_008337.2:g.75220T=
NG_007941.3:g.5851A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.354A= MANE Select ENSP00000496625.1:p.Lys118=
ENST00000418967.6:c.354A= ENSP00000408860.2:p.Lys118=
ENST00000435122.3:c.264A= ENSP00000415043.2:p.Lys88=
ENST00000464325.5:n.275A=
ENST00000466779.5:c.*46A= ENSP00000417321.1:n.*46A=
ENST00000466879.5:n.405A=
ENST00000469053.5:c.*46A= ENSP00000418104.1:n.*46A=
ENST00000471671.4:c.354A= ENSP00000418561.1:p.Lys118=
ENST00000478281.5:c.387A= ENSP00000419572.1:p.Lys129=
ENST00000479074.5:n.412A=
ENST00000479730.5:n.509A=
ENST00000483041.5:n.523A=
ENST00000486063.5:n.534A=
ENST00000488465.1:n.362A=
NM_000500.7:c.354A= NP_000491.4:p.Lys118=
NM_001128590.3:c.264A= NP_001122062.3:p.Lys88=
XM_011514314.1:c.-52A= XP_011512616.1:n.-52A=
NM_000500.9:c.354A= MANE Select NP_000491.4:p.Lys118=
NM_001368143.1:c.-52A= NP_001355072.1:n.-52A=
NM_001368144.1:c.-52A= NP_001355073.1:n.-52A=
NM_001128590.4:c.264A= NP_001122062.3:p.Lys88=
NM_001368143.2:c.-52A= NP_001355072.1:n.-52A=
NM_001368144.2:c.-52A= NP_001355073.1:n.-52A=