Canonical Allele Identifier: CA1619397071
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039611G= , CM000668.2:g.32039611G= GRCh38
NC_000006.11:g.32007388G= , CM000668.1:g.32007388G= GRCh37
NC_000006.10:g.32115367G= NCBI36
NG_007941.2:g.6304G=
NG_008337.2:g.74764C=
NG_007941.3:g.6307G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.615G= MANE Select ENSP00000496625.1:p.Trp205=
ENST00000418967.6:c.615G= ENSP00000408860.2:p.Trp205=
ENST00000435122.3:c.525G= ENSP00000415043.2:p.Trp175=
ENST00000462278.1:n.203G=
ENST00000464325.5:n.536G=
ENST00000466779.5:c.*307G= ENSP00000417321.1:n.*307G=
ENST00000466879.5:n.666G=
ENST00000469053.5:c.*307G= ENSP00000418104.1:n.*307G=
ENST00000479074.5:n.673G=
ENST00000479730.5:n.731G=
ENST00000483041.5:n.784G=
ENST00000486063.5:n.795G=
NM_000500.7:c.615G= NP_000491.4:p.Trp205=
NM_001128590.3:c.525G= NP_001122062.3:p.Trp175=
XM_011514314.1:c.210G= XP_011512616.1:p.Trp70=
NM_000500.9:c.615G= MANE Select NP_000491.4:p.Trp205=
NM_001368143.1:c.210G= NP_001355072.1:p.Trp70=
NM_001368144.1:c.210G= NP_001355073.1:p.Trp70=
NM_001128590.4:c.525G= NP_001122062.3:p.Trp175=
NM_001368143.2:c.210G= NP_001355072.1:p.Trp70=
NM_001368144.2:c.210G= NP_001355073.1:p.Trp70=