Canonical Allele Identifier: CA363499441
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038603A>T , CM000668.2:g.32038603A>T GRCh38
NC_000006.11:g.32006380A>T , CM000668.1:g.32006380A>T GRCh37
NC_000006.10:g.32114359A>T NCBI36
NG_007941.2:g.5296A>T
NG_007941.3:g.5299A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.181A>T MANE Select ENSP00000496625.1:p.Arg61Trp
ENST00000418967.6:c.181A>T ENSP00000408860.2:p.Arg61Trp
ENST00000435122.3:c.181A>T ENSP00000415043.2:p.Arg61Trp
ENST00000464325.5:n.21A>T
ENST00000466779.5:c.181A>T ENSP00000417321.1:p.Arg61Trp
ENST00000469053.5:c.181A>T ENSP00000418104.1:p.Arg61Trp
ENST00000471671.4:c.181A>T ENSP00000418561.1:p.Arg61Trp
ENST00000478281.5:c.181A>T ENSP00000419572.1:p.Arg61Trp
ENST00000479074.5:n.239A>T
ENST00000479730.5:n.239A>T
ENST00000480027.1:n.234A>T
ENST00000483041.5:n.234A>T
ENST00000486063.5:n.264A>T
ENST00000488465.1:n.189A>T
NM_000500.7:c.181A>T NP_000491.4:p.Arg61Trp
NM_001128590.3:c.181A>T NP_001122062.3:p.Arg61Trp
XM_011514314.1:c.-244A>T XP_011512616.1:n.-244A>T
NM_000500.9:c.181A>T MANE Select NP_000491.4:p.Arg61Trp
NM_001368143.1:c.-244A>T NP_001355072.1:n.-244A>T
NM_001368144.1:c.-154A>T NP_001355073.1:n.-154A>T
NM_001128590.4:c.181A>T NP_001122062.3:p.Arg61Trp
NM_001368143.2:c.-244A>T NP_001355072.1:n.-244A>T
NM_001368144.2:c.-154A>T NP_001355073.1:n.-154A>T