Canonical Allele Identifier: CA1619399233
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040460A= , CM000668.2:g.32040460A= GRCh38
NC_000006.11:g.32008237A= , CM000668.1:g.32008237A= GRCh37
NC_000006.10:g.32116216A= NCBI36
NG_007941.2:g.7153A=
NG_008337.2:g.73915T=
NG_007941.3:g.7156A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.994A= MANE Select ENSP00000496625.1:p.Ser332=
ENST00000418967.6:c.994A= ENSP00000408860.2:p.Ser332=
ENST00000435122.3:c.904A= ENSP00000415043.2:p.Ser302=
ENST00000479074.5:n.1052A=
ENST00000479730.5:n.1110A=
ENST00000483041.5:n.1163A=
ENST00000486063.5:n.973A=
NM_000500.7:c.994A= NP_000491.4:p.Ser332=
NM_001128590.3:c.904A= NP_001122062.3:p.Ser302=
XM_011514314.1:c.589A= XP_011512616.1:p.Ser197=
NM_000500.9:c.994A= MANE Select NP_000491.4:p.Ser332=
NM_001368143.1:c.589A= NP_001355072.1:p.Ser197=
NM_001368144.1:c.589A= NP_001355073.1:p.Ser197=
NM_001128590.4:c.904A= NP_001122062.3:p.Ser302=
NM_001368143.2:c.589A= NP_001355072.1:p.Ser197=
NM_001368144.2:c.589A= NP_001355073.1:p.Ser197=