Canonical Allele Identifier: CA1619399602
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32041038C= , CM000668.2:g.32041038C= GRCh38
NC_000006.11:g.32008815C= , CM000668.1:g.32008815C= GRCh37
NC_000006.10:g.32116794C= NCBI36
NG_007941.2:g.7731C=
NG_008337.2:g.73337G=
NG_007941.3:g.7734C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1392C= MANE Select ENSP00000496625.1:p.Pro464=
ENST00000418967.6:c.1392C= ENSP00000408860.2:p.Pro464=
ENST00000435122.3:c.1302C= ENSP00000415043.2:p.Pro434=
ENST00000479074.5:n.1533C=
ENST00000479730.5:n.1508C=
ENST00000483041.5:n.1561C=
ENST00000486063.5:n.1371C=
NM_000500.7:c.1392C= NP_000491.4:p.Pro464=
NM_001128590.3:c.1302C= NP_001122062.3:p.Pro434=
XM_011514314.1:c.987C= XP_011512616.1:p.Pro329=
NM_000500.9:c.1392C= MANE Select NP_000491.4:p.Pro464=
NM_001368143.1:c.987C= NP_001355072.1:p.Pro329=
NM_001368144.1:c.987C= NP_001355073.1:p.Pro329=
NM_001128590.4:c.1302C= NP_001122062.3:p.Pro434=
NM_001368143.2:c.987C= NP_001355072.1:p.Pro329=
NM_001368144.2:c.987C= NP_001355073.1:p.Pro329=