Canonical Allele Identifier: CA1619397311
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040092C= , CM000668.2:g.32040092C= GRCh38
NC_000006.11:g.32007869C= , CM000668.1:g.32007869C= GRCh37
NC_000006.10:g.32115848C= NCBI36
NG_007941.2:g.6785C=
NG_008337.2:g.74283G=
NG_007941.3:g.6788C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.826C= MANE Select ENSP00000496625.1:p.Gln276=
ENST00000418967.6:c.826C= ENSP00000408860.2:p.Gln276=
ENST00000435122.3:c.736C= ENSP00000415043.2:p.Gln246=
ENST00000479074.5:n.884C=
ENST00000479730.5:n.942C=
ENST00000483041.5:n.995C=
ENST00000486063.5:n.918+257C=
NM_000500.7:c.826C= NP_000491.4:p.Gln276=
NM_001128590.3:c.736C= NP_001122062.3:p.Gln246=
XM_011514314.1:c.421C= XP_011512616.1:p.Gln141=
NM_000500.9:c.826C= MANE Select NP_000491.4:p.Gln276=
NM_001368143.1:c.421C= NP_001355072.1:p.Gln141=
NM_001368144.1:c.421C= NP_001355073.1:p.Gln141=
NM_001128590.4:c.736C= NP_001122062.3:p.Gln246=
NM_001368143.2:c.421C= NP_001355072.1:p.Gln141=
NM_001368144.2:c.421C= NP_001355073.1:p.Gln141=