Canonical Allele Identifier: CA1619397179
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039818C= , CM000668.2:g.32039818C= GRCh38
NC_000006.11:g.32007595C= , CM000668.1:g.32007595C= GRCh37
NC_000006.10:g.32115574C= NCBI36
NG_007941.2:g.6511C=
NG_008337.2:g.74557G=
NG_007941.3:g.6514C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.721C= MANE Select ENSP00000496625.1:p.Gln241=
ENST00000418967.6:c.721C= ENSP00000408860.2:p.Gln241=
ENST00000435122.3:c.631C= ENSP00000415043.2:p.Gln211=
ENST00000462278.1:n.410C=
ENST00000466779.5:c.*413C= ENSP00000417321.1:n.*413C=
ENST00000466879.5:n.772C=
ENST00000479074.5:n.779C=
ENST00000479730.5:n.837C=
ENST00000483041.5:n.890C=
ENST00000486063.5:n.901C=
NM_000500.7:c.721C= NP_000491.4:p.Gln241=
NM_001128590.3:c.631C= NP_001122062.3:p.Gln211=
XM_011514314.1:c.316C= XP_011512616.1:p.Gln106=
NM_000500.9:c.721C= MANE Select NP_000491.4:p.Gln241=
NM_001368143.1:c.316C= NP_001355072.1:p.Gln106=
NM_001368144.1:c.316C= NP_001355073.1:p.Gln106=
NM_001128590.4:c.631C= NP_001122062.3:p.Gln211=
NM_001368143.2:c.316C= NP_001355072.1:p.Gln106=
NM_001368144.2:c.316C= NP_001355073.1:p.Gln106=