Canonical Allele Identifier: CA1619397411
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040285C= , CM000668.2:g.32040285C= GRCh38
NC_000006.11:g.32008062C= , CM000668.1:g.32008062C= GRCh37
NC_000006.10:g.32116041C= NCBI36
NG_007941.2:g.6978C=
NG_008337.2:g.74090G=
NG_007941.3:g.6981C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.939+80C= MANE Select ENSP00000496625.1:n.939+80C=
ENST00000418967.6:c.939+80C= ENSP00000408860.2:n.939+80C=
ENST00000435122.3:c.849+80C= ENSP00000415043.2:n.849+80C=
ENST00000479074.5:n.997+80C=
ENST00000479730.5:n.1055+80C=
ENST00000483041.5:n.1108+80C=
ENST00000486063.5:n.919-121C=
NM_000500.7:c.939+80C= NP_000491.4:n.939+80C=
NM_001128590.3:c.849+80C= NP_001122062.3:n.849+80C=
XM_011514314.1:c.534+80C= XP_011512616.1:n.534+80C=
NM_000500.9:c.939+80C= MANE Select NP_000491.4:n.939+80C=
NM_001368143.1:c.534+80C= NP_001355072.1:n.534+80C=
NM_001368144.1:c.534+80C= NP_001355073.1:n.534+80C=
NM_001128590.4:c.849+80C= NP_001122062.3:n.849+80C=
NM_001368143.2:c.534+80C= NP_001355072.1:n.534+80C=
NM_001368144.2:c.534+80C= NP_001355073.1:n.534+80C=