Canonical Allele Identifier: CA1619397155
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039775G= , CM000668.2:g.32039775G= GRCh38
NC_000006.11:g.32007552G= , CM000668.1:g.32007552G= GRCh37
NC_000006.10:g.32115531G= NCBI36
NG_007941.2:g.6468G=
NG_008337.2:g.74600C=
NG_007941.3:g.6471G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.678G= MANE Select ENSP00000496625.1:p.Arg226=
ENST00000418967.6:c.678G= ENSP00000408860.2:p.Arg226=
ENST00000435122.3:c.588G= ENSP00000415043.2:p.Arg196=
ENST00000462278.1:n.367G=
ENST00000466779.5:c.*370G= ENSP00000417321.1:n.*370G=
ENST00000466879.5:n.729G=
ENST00000479074.5:n.736G=
ENST00000479730.5:n.794G=
ENST00000483041.5:n.847G=
ENST00000486063.5:n.858G=
NM_000500.7:c.678G= NP_000491.4:p.Arg226=
NM_001128590.3:c.588G= NP_001122062.3:p.Arg196=
XM_011514314.1:c.273G= XP_011512616.1:p.Arg91=
NM_000500.9:c.678G= MANE Select NP_000491.4:p.Arg226=
NM_001368143.1:c.273G= NP_001355072.1:p.Arg91=
NM_001368144.1:c.273G= NP_001355073.1:p.Arg91=
NM_001128590.4:c.588G= NP_001122062.3:p.Arg196=
NM_001368143.2:c.273G= NP_001355072.1:p.Arg91=
NM_001368144.2:c.273G= NP_001355073.1:p.Arg91=