Canonical Allele Identifier: CA1619396802
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039157C= , CM000668.2:g.32039157C= GRCh38
NC_000006.11:g.32006934C= , CM000668.1:g.32006934C= GRCh37
NC_000006.10:g.32114913C= NCBI36
NG_007941.2:g.5850C=
NG_008337.2:g.75218G=
NG_007941.3:g.5853C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.356C= MANE Select ENSP00000496625.1:p.Ala119=
ENST00000418967.6:c.356C= ENSP00000408860.2:p.Ala119=
ENST00000435122.3:c.266C= ENSP00000415043.2:p.Ala89=
ENST00000464325.5:n.277C=
ENST00000466779.5:c.*48C= ENSP00000417321.1:n.*48C=
ENST00000466879.5:n.407C=
ENST00000469053.5:c.*48C= ENSP00000418104.1:n.*48C=
ENST00000471671.4:c.356C= ENSP00000418561.1:p.Ala119=
ENST00000478281.5:c.389C= ENSP00000419572.1:p.Ala130=
ENST00000479074.5:n.414C=
ENST00000479730.5:n.511C=
ENST00000483041.5:n.525C=
ENST00000486063.5:n.536C=
ENST00000488465.1:n.364C=
NM_000500.7:c.356C= NP_000491.4:p.Ala119=
NM_001128590.3:c.266C= NP_001122062.3:p.Ala89=
XM_011514314.1:c.-50C= XP_011512616.1:n.-50C=
NM_000500.9:c.356C= MANE Select NP_000491.4:p.Ala119=
NM_001368143.1:c.-50C= NP_001355072.1:n.-50C=
NM_001368144.1:c.-50C= NP_001355073.1:n.-50C=
NM_001128590.4:c.266C= NP_001122062.3:p.Ala89=
NM_001368143.2:c.-50C= NP_001355072.1:n.-50C=
NM_001368144.2:c.-50C= NP_001355073.1:n.-50C=