Canonical Allele Identifier: CA363505719
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040006A>T , CM000668.2:g.32040006A>T GRCh38
NC_000006.11:g.32007783A>T , CM000668.1:g.32007783A>T GRCh37
NC_000006.10:g.32115762A>T NCBI36
NG_007941.2:g.6699A>T
NG_008337.2:g.74369T>A
NG_007941.3:g.6702A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.740A>T MANE Select ENSP00000496625.1:p.Glu247Val
ENST00000418967.6:c.740A>T ENSP00000408860.2:p.Glu247Val
ENST00000435122.3:c.650A>T ENSP00000415043.2:p.Glu217Val
ENST00000479074.5:n.798A>T
ENST00000479730.5:n.856A>T
ENST00000483041.5:n.909A>T
ENST00000486063.5:n.918+171A>T
NM_000500.7:c.740A>T NP_000491.4:p.Glu247Val
NM_001128590.3:c.650A>T NP_001122062.3:p.Glu217Val
XM_011514314.1:c.335A>T XP_011512616.1:p.Glu112Val
NM_000500.9:c.740A>T MANE Select NP_000491.4:p.Glu247Val
NM_001368143.1:c.335A>T NP_001355072.1:p.Glu112Val
NM_001368144.1:c.335A>T NP_001355073.1:p.Glu112Val
NM_001128590.4:c.650A>T NP_001122062.3:p.Glu217Val
NM_001368143.2:c.335A>T NP_001355072.1:p.Glu112Val
NM_001368144.2:c.335A>T NP_001355073.1:p.Glu112Val