Canonical Allele Identifier: CA363498836
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038501A>C , CM000668.2:g.32038501A>C GRCh38
NC_000006.11:g.32006278A>C , CM000668.1:g.32006278A>C GRCh37
NC_000006.10:g.32114257A>C NCBI36
NG_007941.2:g.5194A>C
NG_007941.3:g.5197A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.79A>C MANE Select ENSP00000496625.1:p.Ser27Arg
ENST00000418967.6:c.79A>C ENSP00000408860.2:p.Ser27Arg
ENST00000435122.3:c.79A>C ENSP00000415043.2:p.Ser27Arg
ENST00000466779.5:c.79A>C ENSP00000417321.1:p.Ser27Arg
ENST00000469053.5:c.79A>C ENSP00000418104.1:p.Ser27Arg
ENST00000471671.4:c.79A>C ENSP00000418561.1:p.Ser27Arg
ENST00000478281.5:c.79A>C ENSP00000419572.1:p.Ser27Arg
ENST00000479074.5:n.137A>C
ENST00000479730.5:n.137A>C
ENST00000480027.1:n.132A>C
ENST00000483041.5:n.132A>C
ENST00000486063.5:n.162A>C
ENST00000488465.1:n.87A>C
NM_000500.7:c.79A>C NP_000491.4:p.Ser27Arg
NM_001128590.3:c.79A>C NP_001122062.3:p.Ser27Arg
XM_011514314.1:c.-346A>C XP_011512616.1:n.-346A>C
NM_000500.9:c.79A>C MANE Select NP_000491.4:p.Ser27Arg
NM_001368143.1:c.-346A>C NP_001355072.1:n.-346A>C
NM_001368144.1:c.-256A>C NP_001355073.1:n.-256A>C
NM_001128590.4:c.79A>C NP_001122062.3:p.Ser27Arg
NM_001368143.2:c.-346A>C NP_001355072.1:n.-346A>C
NM_001368144.2:c.-256A>C NP_001355073.1:n.-256A>C