Canonical Allele Identifier: CA1619396808
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039165A= , CM000668.2:g.32039165A= GRCh38
NC_000006.11:g.32006942A= , CM000668.1:g.32006942A= GRCh37
NC_000006.10:g.32114921A= NCBI36
NG_007941.2:g.5858A=
NG_008337.2:g.75210T=
NG_007941.3:g.5861A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.364A= MANE Select ENSP00000496625.1:p.Lys122=
ENST00000418967.6:c.364A= ENSP00000408860.2:p.Lys122=
ENST00000435122.3:c.274A= ENSP00000415043.2:p.Lys92=
ENST00000464325.5:n.285A=
ENST00000466779.5:c.*56A= ENSP00000417321.1:n.*56A=
ENST00000466879.5:n.415A=
ENST00000469053.5:c.*56A= ENSP00000418104.1:n.*56A=
ENST00000471671.4:c.364A= ENSP00000418561.1:p.Lys122=
ENST00000478281.5:c.397A= ENSP00000419572.1:p.Lys133=
ENST00000479074.5:n.422A=
ENST00000479730.5:n.519A=
ENST00000483041.5:n.533A=
ENST00000486063.5:n.544A=
ENST00000488465.1:n.372A=
NM_000500.7:c.364A= NP_000491.4:p.Lys122=
NM_001128590.3:c.274A= NP_001122062.3:p.Lys92=
XM_011514314.1:c.-42A= XP_011512616.1:n.-42A=
NM_000500.9:c.364A= MANE Select NP_000491.4:p.Lys122=
NM_001368143.1:c.-42A= NP_001355072.1:n.-42A=
NM_001368144.1:c.-42A= NP_001355073.1:n.-42A=
NM_001128590.4:c.274A= NP_001122062.3:p.Lys92=
NM_001368143.2:c.-42A= NP_001355072.1:n.-42A=
NM_001368144.2:c.-42A= NP_001355073.1:n.-42A=