Canonical Allele Identifier: CA1619399518
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040950C= , CM000668.2:g.32040950C= GRCh38
NC_000006.11:g.32008727C= , CM000668.1:g.32008727C= GRCh37
NC_000006.10:g.32116706C= NCBI36
NG_007941.2:g.7643C=
NG_008337.2:g.73425G=
NG_007941.3:g.7646C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1304C= MANE Select ENSP00000496625.1:p.Ala435=
ENST00000418967.6:c.1304C= ENSP00000408860.2:p.Ala435=
ENST00000435122.3:c.1214C= ENSP00000415043.2:p.Ala405=
ENST00000479074.5:n.1445C=
ENST00000479730.5:n.1420C=
ENST00000483041.5:n.1473C=
ENST00000486063.5:n.1283C=
NM_000500.7:c.1304C= NP_000491.4:p.Ala435=
NM_001128590.3:c.1214C= NP_001122062.3:p.Ala405=
XM_011514314.1:c.899C= XP_011512616.1:p.Ala300=
NM_000500.9:c.1304C= MANE Select NP_000491.4:p.Ala435=
NM_001368143.1:c.899C= NP_001355072.1:p.Ala300=
NM_001368144.1:c.899C= NP_001355073.1:p.Ala300=
NM_001128590.4:c.1214C= NP_001122062.3:p.Ala405=
NM_001368143.2:c.899C= NP_001355072.1:p.Ala300=
NM_001368144.2:c.899C= NP_001355073.1:p.Ala300=