Canonical Allele Identifier: CA1619397072
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039614C= , CM000668.2:g.32039614C= GRCh38
NC_000006.11:g.32007391C= , CM000668.1:g.32007391C= GRCh37
NC_000006.10:g.32115370C= NCBI36
NG_007941.2:g.6307C=
NG_008337.2:g.74761G=
NG_007941.3:g.6310C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.618C= MANE Select ENSP00000496625.1:p.Ser206=
ENST00000418967.6:c.618C= ENSP00000408860.2:p.Ser206=
ENST00000435122.3:c.528C= ENSP00000415043.2:p.Ser176=
ENST00000462278.1:n.206C=
ENST00000464325.5:n.539C=
ENST00000466779.5:c.*310C= ENSP00000417321.1:n.*310C=
ENST00000466879.5:n.669C=
ENST00000469053.5:c.*310C= ENSP00000418104.1:n.*310C=
ENST00000479074.5:n.676C=
ENST00000479730.5:n.734C=
ENST00000483041.5:n.787C=
ENST00000486063.5:n.798C=
NM_000500.7:c.618C= NP_000491.4:p.Ser206=
NM_001128590.3:c.528C= NP_001122062.3:p.Ser176=
XM_011514314.1:c.213C= XP_011512616.1:p.Ser71=
NM_000500.9:c.618C= MANE Select NP_000491.4:p.Ser206=
NM_001368143.1:c.213C= NP_001355072.1:p.Ser71=
NM_001368144.1:c.213C= NP_001355073.1:p.Ser71=
NM_001128590.4:c.528C= NP_001122062.3:p.Ser176=
NM_001368143.2:c.213C= NP_001355072.1:p.Ser71=
NM_001368144.2:c.213C= NP_001355073.1:p.Ser71=