Canonical Allele Identifier: CA1619397077
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039621A= , CM000668.2:g.32039621A= GRCh38
NC_000006.11:g.32007398A= , CM000668.1:g.32007398A= GRCh37
NC_000006.10:g.32115377A= NCBI36
NG_007941.2:g.6314A=
NG_008337.2:g.74754T=
NG_007941.3:g.6317A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.625A= MANE Select ENSP00000496625.1:p.Ile209=
ENST00000418967.6:c.625A= ENSP00000408860.2:p.Ile209=
ENST00000435122.3:c.535A= ENSP00000415043.2:p.Ile179=
ENST00000462278.1:n.213A=
ENST00000464325.5:n.546A=
ENST00000466779.5:c.*317A= ENSP00000417321.1:n.*317A=
ENST00000466879.5:n.676A=
ENST00000469053.5:c.*317A= ENSP00000418104.1:n.*317A=
ENST00000479074.5:n.683A=
ENST00000479730.5:n.741A=
ENST00000483041.5:n.794A=
ENST00000486063.5:n.805A=
NM_000500.7:c.625A= NP_000491.4:p.Ile209=
NM_001128590.3:c.535A= NP_001122062.3:p.Ile179=
XM_011514314.1:c.220A= XP_011512616.1:p.Ile74=
NM_000500.9:c.625A= MANE Select NP_000491.4:p.Ile209=
NM_001368143.1:c.220A= NP_001355072.1:p.Ile74=
NM_001368144.1:c.220A= NP_001355073.1:p.Ile74=
NM_001128590.4:c.535A= NP_001122062.3:p.Ile179=
NM_001368143.2:c.220A= NP_001355072.1:p.Ile74=
NM_001368144.2:c.220A= NP_001355073.1:p.Ile74=