Canonical Allele Identifier: CA1619397303
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040071A= , CM000668.2:g.32040071A= GRCh38
NC_000006.11:g.32007848A= , CM000668.1:g.32007848A= GRCh37
NC_000006.10:g.32115827A= NCBI36
NG_007941.2:g.6764A=
NG_008337.2:g.74304T=
NG_007941.3:g.6767A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.805A= MANE Select ENSP00000496625.1:p.Ser269=
ENST00000418967.6:c.805A= ENSP00000408860.2:p.Ser269=
ENST00000435122.3:c.715A= ENSP00000415043.2:p.Ser239=
ENST00000479074.5:n.863A=
ENST00000479730.5:n.921A=
ENST00000483041.5:n.974A=
ENST00000486063.5:n.918+236A=
NM_000500.7:c.805A= NP_000491.4:p.Ser269=
NM_001128590.3:c.715A= NP_001122062.3:p.Ser239=
XM_011514314.1:c.400A= XP_011512616.1:p.Ser134=
NM_000500.9:c.805A= MANE Select NP_000491.4:p.Ser269=
NM_001368143.1:c.400A= NP_001355072.1:p.Ser134=
NM_001368144.1:c.400A= NP_001355073.1:p.Ser134=
NM_001128590.4:c.715A= NP_001122062.3:p.Ser239=
NM_001368143.2:c.400A= NP_001355072.1:p.Ser134=
NM_001368144.2:c.400A= NP_001355073.1:p.Ser134=