Canonical Allele Identifier: CA1619397062
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039597A= , CM000668.2:g.32039597A= GRCh38
NC_000006.11:g.32007374A= , CM000668.1:g.32007374A= GRCh37
NC_000006.10:g.32115353A= NCBI36
NG_007941.2:g.6290A=
NG_008337.2:g.74778T=
NG_007941.3:g.6293A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.601A= MANE Select ENSP00000496625.1:p.Thr201=
ENST00000418967.6:c.601A= ENSP00000408860.2:p.Thr201=
ENST00000435122.3:c.511A= ENSP00000415043.2:p.Thr171=
ENST00000462278.1:n.189A=
ENST00000464325.5:n.522A=
ENST00000466779.5:c.*293A= ENSP00000417321.1:n.*293A=
ENST00000466879.5:n.652A=
ENST00000469053.5:c.*293A= ENSP00000418104.1:n.*293A=
ENST00000471671.4:c.562A= ENSP00000418561.1:p.Thr188=
ENST00000479074.5:n.659A=
ENST00000479730.5:n.717A=
ENST00000483041.5:n.770A=
ENST00000486063.5:n.781A=
NM_000500.7:c.601A= NP_000491.4:p.Thr201=
NM_001128590.3:c.511A= NP_001122062.3:p.Thr171=
XM_011514314.1:c.196A= XP_011512616.1:p.Thr66=
NM_000500.9:c.601A= MANE Select NP_000491.4:p.Thr201=
NM_001368143.1:c.196A= NP_001355072.1:p.Thr66=
NM_001368144.1:c.196A= NP_001355073.1:p.Thr66=
NM_001128590.4:c.511A= NP_001122062.3:p.Thr171=
NM_001368143.2:c.196A= NP_001355072.1:p.Thr66=
NM_001368144.2:c.196A= NP_001355073.1:p.Thr66=