Canonical Allele Identifier: CA363505932
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040029A>T , CM000668.2:g.32040029A>T GRCh38
NC_000006.11:g.32007806A>T , CM000668.1:g.32007806A>T GRCh37
NC_000006.10:g.32115785A>T NCBI36
NG_007941.2:g.6722A>T
NG_008337.2:g.74346T>A
NG_007941.3:g.6725A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.763A>T MANE Select ENSP00000496625.1:p.Arg255Trp
ENST00000418967.6:c.763A>T ENSP00000408860.2:p.Arg255Trp
ENST00000435122.3:c.673A>T ENSP00000415043.2:p.Arg225Trp
ENST00000479074.5:n.821A>T
ENST00000479730.5:n.879A>T
ENST00000483041.5:n.932A>T
ENST00000486063.5:n.918+194A>T
NM_000500.7:c.763A>T NP_000491.4:p.Arg255Trp
NM_001128590.3:c.673A>T NP_001122062.3:p.Arg225Trp
XM_011514314.1:c.358A>T XP_011512616.1:p.Arg120Trp
NM_000500.9:c.763A>T MANE Select NP_000491.4:p.Arg255Trp
NM_001368143.1:c.358A>T NP_001355072.1:p.Arg120Trp
NM_001368144.1:c.358A>T NP_001355073.1:p.Arg120Trp
NM_001128590.4:c.673A>T NP_001122062.3:p.Arg225Trp
NM_001368143.2:c.358A>T NP_001355072.1:p.Arg120Trp
NM_001368144.2:c.358A>T NP_001355073.1:p.Arg120Trp