Canonical Allele Identifier: CA363506842
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040103A>T , CM000668.2:g.32040103A>T GRCh38
NC_000006.11:g.32007880A>T , CM000668.1:g.32007880A>T GRCh37
NC_000006.10:g.32115859A>T NCBI36
NG_007941.2:g.6796A>T
NG_008337.2:g.74272T>A
NG_007941.3:g.6799A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.837A>T MANE Select ENSP00000496625.1:p.Glu279Asp
ENST00000418967.6:c.837A>T ENSP00000408860.2:p.Glu279Asp
ENST00000435122.3:c.747A>T ENSP00000415043.2:p.Glu249Asp
ENST00000479074.5:n.895A>T
ENST00000479730.5:n.953A>T
ENST00000483041.5:n.1006A>T
ENST00000486063.5:n.918+268A>T
NM_000500.7:c.837A>T NP_000491.4:p.Glu279Asp
NM_001128590.3:c.747A>T NP_001122062.3:p.Glu249Asp
XM_011514314.1:c.432A>T XP_011512616.1:p.Glu144Asp
NM_000500.9:c.837A>T MANE Select NP_000491.4:p.Glu279Asp
NM_001368143.1:c.432A>T NP_001355072.1:p.Glu144Asp
NM_001368144.1:c.432A>T NP_001355073.1:p.Glu144Asp
NM_001128590.4:c.747A>T NP_001122062.3:p.Glu249Asp
NM_001368143.2:c.432A>T NP_001355072.1:p.Glu144Asp
NM_001368144.2:c.432A>T NP_001355073.1:p.Glu144Asp