Canonical Allele Identifier: CA1619397075
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039619A= , CM000668.2:g.32039619A= GRCh38
NC_000006.11:g.32007396A= , CM000668.1:g.32007396A= GRCh37
NC_000006.10:g.32115375A= NCBI36
NG_007941.2:g.6312A=
NG_008337.2:g.74756T=
NG_007941.3:g.6315A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.623A= MANE Select ENSP00000496625.1:p.Gln208=
ENST00000418967.6:c.623A= ENSP00000408860.2:p.Gln208=
ENST00000435122.3:c.533A= ENSP00000415043.2:p.Gln178=
ENST00000462278.1:n.211A=
ENST00000464325.5:n.544A=
ENST00000466779.5:c.*315A= ENSP00000417321.1:n.*315A=
ENST00000466879.5:n.674A=
ENST00000469053.5:c.*315A= ENSP00000418104.1:n.*315A=
ENST00000479074.5:n.681A=
ENST00000479730.5:n.739A=
ENST00000483041.5:n.792A=
ENST00000486063.5:n.803A=
NM_000500.7:c.623A= NP_000491.4:p.Gln208=
NM_001128590.3:c.533A= NP_001122062.3:p.Gln178=
XM_011514314.1:c.218A= XP_011512616.1:p.Gln73=
NM_000500.9:c.623A= MANE Select NP_000491.4:p.Gln208=
NM_001368143.1:c.218A= NP_001355072.1:p.Gln73=
NM_001368144.1:c.218A= NP_001355073.1:p.Gln73=
NM_001128590.4:c.533A= NP_001122062.3:p.Gln178=
NM_001368143.2:c.218A= NP_001355072.1:p.Gln73=
NM_001368144.2:c.218A= NP_001355073.1:p.Gln73=