Canonical Allele Identifier: CA1619397306
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040079A= , CM000668.2:g.32040079A= GRCh38
NC_000006.11:g.32007856A= , CM000668.1:g.32007856A= GRCh37
NC_000006.10:g.32115835A= NCBI36
NG_007941.2:g.6772A=
NG_008337.2:g.74296T=
NG_007941.3:g.6775A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.813A= MANE Select ENSP00000496625.1:p.Glu271=
ENST00000418967.6:c.813A= ENSP00000408860.2:p.Glu271=
ENST00000435122.3:c.723A= ENSP00000415043.2:p.Glu241=
ENST00000479074.5:n.871A=
ENST00000479730.5:n.929A=
ENST00000483041.5:n.982A=
ENST00000486063.5:n.918+244A=
NM_000500.7:c.813A= NP_000491.4:p.Glu271=
NM_001128590.3:c.723A= NP_001122062.3:p.Glu241=
XM_011514314.1:c.408A= XP_011512616.1:p.Glu136=
NM_000500.9:c.813A= MANE Select NP_000491.4:p.Glu271=
NM_001368143.1:c.408A= NP_001355072.1:p.Glu136=
NM_001368144.1:c.408A= NP_001355073.1:p.Glu136=
NM_001128590.4:c.723A= NP_001122062.3:p.Glu241=
NM_001368143.2:c.408A= NP_001355072.1:p.Glu136=
NM_001368144.2:c.408A= NP_001355073.1:p.Glu136=