Canonical Allele Identifier: CA449729670
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040091A>C , CM000668.2:g.32040091A>C GRCh38
NC_000006.11:g.32007868A>C , CM000668.1:g.32007868A>C GRCh37
NC_000006.10:g.32115847A>C NCBI36
NG_007941.2:g.6784A>C
NG_008337.2:g.74284T>G
NG_007941.3:g.6787A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.825A>C MANE Select ENSP00000496625.1:p.Gly275=
ENST00000418967.6:c.825A>C ENSP00000408860.2:p.Gly275=
ENST00000435122.3:c.735A>C ENSP00000415043.2:p.Gly245=
ENST00000479074.5:n.883A>C
ENST00000479730.5:n.941A>C
ENST00000483041.5:n.994A>C
ENST00000486063.5:n.918+256A>C
NM_000500.7:c.825A>C NP_000491.4:p.Gly275=
NM_001128590.3:c.735A>C NP_001122062.3:p.Gly245=
XM_011514314.1:c.420A>C XP_011512616.1:p.Gly140=
NM_000500.9:c.825A>C MANE Select NP_000491.4:p.Gly275=
NM_001368143.1:c.420A>C NP_001355072.1:p.Gly140=
NM_001368144.1:c.420A>C NP_001355073.1:p.Gly140=
NM_001128590.4:c.735A>C NP_001122062.3:p.Gly245=
NM_001368143.2:c.420A>C NP_001355072.1:p.Gly140=
NM_001368144.2:c.420A>C NP_001355073.1:p.Gly140=