Canonical Allele Identifier: CA1619396842
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039225C= , CM000668.2:g.32039225C= GRCh38
NC_000006.11:g.32007002C= , CM000668.1:g.32007002C= GRCh37
NC_000006.10:g.32114981C= NCBI36
NG_007941.2:g.5918C=
NG_008337.2:g.75150G=
NG_007941.3:g.5921C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.424C= MANE Select ENSP00000496625.1:p.Gln142=
ENST00000418967.6:c.424C= ENSP00000408860.2:p.Gln142=
ENST00000435122.3:c.334C= ENSP00000415043.2:p.Gln112=
ENST00000462278.1:n.12C=
ENST00000464325.5:n.345C=
ENST00000466779.5:c.*116C= ENSP00000417321.1:n.*116C=
ENST00000466879.5:n.475C=
ENST00000469053.5:c.*116C= ENSP00000418104.1:n.*116C=
ENST00000471671.4:c.424C= ENSP00000418561.1:p.Gln142=
ENST00000478281.5:c.457C= ENSP00000419572.1:p.Gln153=
ENST00000479074.5:n.482C=
ENST00000479730.5:n.579C=
ENST00000483041.5:n.593C=
ENST00000486063.5:n.604C=
ENST00000488465.1:n.432C=
NM_000500.7:c.424C= NP_000491.4:p.Gln142=
NM_001128590.3:c.334C= NP_001122062.3:p.Gln112=
XM_011514314.1:c.19C= XP_011512616.1:p.Gln7=
NM_000500.9:c.424C= MANE Select NP_000491.4:p.Gln142=
NM_001368143.1:c.19C= NP_001355072.1:p.Gln7=
NM_001368144.1:c.19C= NP_001355073.1:p.Gln7=
NM_001128590.4:c.334C= NP_001122062.3:p.Gln112=
NM_001368143.2:c.19C= NP_001355072.1:p.Gln7=
NM_001368144.2:c.19C= NP_001355073.1:p.Gln7=