Canonical Allele Identifier: CA1619399246
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040484C= , CM000668.2:g.32040484C= GRCh38
NC_000006.11:g.32008261C= , CM000668.1:g.32008261C= GRCh37
NC_000006.10:g.32116240C= NCBI36
NG_007941.2:g.7177C=
NG_008337.2:g.73891G=
NG_007941.3:g.7180C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1018C= MANE Select ENSP00000496625.1:p.Arg340=
ENST00000418967.6:c.1018C= ENSP00000408860.2:p.Arg340=
ENST00000435122.3:c.928C= ENSP00000415043.2:p.Arg310=
ENST00000479074.5:n.1076C=
ENST00000479730.5:n.1134C=
ENST00000483041.5:n.1187C=
ENST00000486063.5:n.997C=
NM_000500.7:c.1018C= NP_000491.4:p.Arg340=
NM_001128590.3:c.928C= NP_001122062.3:p.Arg310=
XM_011514314.1:c.613C= XP_011512616.1:p.Arg205=
NM_000500.9:c.1018C= MANE Select NP_000491.4:p.Arg340=
NM_001368143.1:c.613C= NP_001355072.1:p.Arg205=
NM_001368144.1:c.613C= NP_001355073.1:p.Arg205=
NM_001128590.4:c.928C= NP_001122062.3:p.Arg310=
NM_001368143.2:c.613C= NP_001355072.1:p.Arg205=
NM_001368144.2:c.613C= NP_001355073.1:p.Arg205=