Canonical Allele Identifier: CA1619396778
Community Standard Title: NM_000500.9(CYP21A2):c.308G= (p.Arg103=)
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039109G= , CM000668.2:g.32039109G= GRCh38
NC_000006.11:g.32006886G= , CM000668.1:g.32006886G= GRCh37
NC_000006.10:g.32114865G= NCBI36
NG_007941.2:g.5802G=
NG_007941.3:g.5805G=

Transcript Alleles

HGVS Amino-acid Change
NM_000500.9:c.308G= MANE Select NP_000491.4:p.Arg103=
ENST00000644719.2:c.308G= MANE Select ENSP00000496625.1:p.Arg103=
NM_000500.7:c.308G= NP_000491.4:p.Arg103=
NM_001128590.3:c.218G= NP_001122062.3:p.Arg73=
NM_001128590.4:c.218G= NP_001122062.3:p.Arg73=
NM_001368143.1:c.-98G= NP_001355072.1:n.-98G=
NM_001368143.2:c.-98G= NP_001355072.1:n.-98G=
NM_001368144.1:c.-98G= NP_001355073.1:n.-98G=
NM_001368144.2:c.-98G= NP_001355073.1:n.-98G=
ENST00000418967.6:c.308G= ENSP00000408860.2:p.Arg103=
ENST00000435122.3:c.218G= ENSP00000415043.2:p.Arg73=
ENST00000464325.5:n.230-1G=
ENST00000466779.5:c.327G= ENSP00000417321.1:p.Ter109=
ENST00000466879.5:n.359G=
ENST00000469053.5:c.237G= ENSP00000418104.1:p.Ter79=
ENST00000471671.4:c.308G= ENSP00000418561.1:p.Arg103=
ENST00000478281.5:c.341G= ENSP00000419572.1:p.Arg114=
ENST00000479074.5:n.366G=
ENST00000479730.5:n.463G=
ENST00000480027.1:n.643G=
ENST00000483041.5:n.477G=
ENST00000486063.5:n.488G=
ENST00000488465.1:n.316G=
XM_011514314.1:c.-98G= XP_011512616.1:n.-98G=