Canonical Allele Identifier: CA1619397386
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040233C= , CM000668.2:g.32040233C= GRCh38
NC_000006.11:g.32008010C= , CM000668.1:g.32008010C= GRCh37
NC_000006.10:g.32115989C= NCBI36
NG_007941.2:g.6926C=
NG_008337.2:g.74142G=
NG_007941.3:g.6929C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.939+28C= MANE Select ENSP00000496625.1:n.939+28C=
ENST00000418967.6:c.939+28C= ENSP00000408860.2:n.939+28C=
ENST00000435122.3:c.849+28C= ENSP00000415043.2:n.849+28C=
ENST00000479074.5:n.997+28C=
ENST00000479730.5:n.1055+28C=
ENST00000483041.5:n.1108+28C=
ENST00000486063.5:n.919-173C=
NM_000500.7:c.939+28C= NP_000491.4:n.939+28C=
NM_001128590.3:c.849+28C= NP_001122062.3:n.849+28C=
XM_011514314.1:c.534+28C= XP_011512616.1:n.534+28C=
NM_000500.9:c.939+28C= MANE Select NP_000491.4:n.939+28C=
NM_001368143.1:c.534+28C= NP_001355072.1:n.534+28C=
NM_001368144.1:c.534+28C= NP_001355073.1:n.534+28C=
NM_001128590.4:c.849+28C= NP_001122062.3:n.849+28C=
NM_001368143.2:c.534+28C= NP_001355072.1:n.534+28C=
NM_001368144.2:c.534+28C= NP_001355073.1:n.534+28C=