Canonical Allele Identifier: CA363506865
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040108A>G , CM000668.2:g.32040108A>G GRCh38
NC_000006.11:g.32007885A>G , CM000668.1:g.32007885A>G GRCh37
NC_000006.10:g.32115864A>G NCBI36
NG_007941.2:g.6801A>G
NG_008337.2:g.74267T>C
NG_007941.3:g.6804A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.842A>G MANE Select ENSP00000496625.1:p.His281Arg
ENST00000418967.6:c.842A>G ENSP00000408860.2:p.His281Arg
ENST00000435122.3:c.752A>G ENSP00000415043.2:p.His251Arg
ENST00000479074.5:n.900A>G
ENST00000479730.5:n.958A>G
ENST00000483041.5:n.1011A>G
ENST00000486063.5:n.918+273A>G
NM_000500.7:c.842A>G NP_000491.4:p.His281Arg
NM_001128590.3:c.752A>G NP_001122062.3:p.His251Arg
XM_011514314.1:c.437A>G XP_011512616.1:p.His146Arg
NM_000500.9:c.842A>G MANE Select NP_000491.4:p.His281Arg
NM_001368143.1:c.437A>G NP_001355072.1:p.His146Arg
NM_001368144.1:c.437A>G NP_001355073.1:p.His146Arg
NM_001128590.4:c.752A>G NP_001122062.3:p.His251Arg
NM_001368143.2:c.437A>G NP_001355072.1:p.His146Arg
NM_001368144.2:c.437A>G NP_001355073.1:p.His146Arg