Canonical Allele Identifier: CA1619399539
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040989A= , CM000668.2:g.32040989A= GRCh38
NC_000006.11:g.32008766A= , CM000668.1:g.32008766A= GRCh37
NC_000006.10:g.32116745A= NCBI36
NG_007941.2:g.7682A=
NG_008337.2:g.73386T=
NG_007941.3:g.7685A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1343A= MANE Select ENSP00000496625.1:p.Gln448=
ENST00000418967.6:c.1343A= ENSP00000408860.2:p.Gln448=
ENST00000435122.3:c.1253A= ENSP00000415043.2:p.Gln418=
ENST00000479074.5:n.1484A=
ENST00000479730.5:n.1459A=
ENST00000483041.5:n.1512A=
ENST00000486063.5:n.1322A=
NM_000500.7:c.1343A= NP_000491.4:p.Gln448=
NM_001128590.3:c.1253A= NP_001122062.3:p.Gln418=
XM_011514314.1:c.938A= XP_011512616.1:p.Gln313=
NM_000500.9:c.1343A= MANE Select NP_000491.4:p.Gln448=
NM_001368143.1:c.938A= NP_001355072.1:p.Gln313=
NM_001368144.1:c.938A= NP_001355073.1:p.Gln313=
NM_001128590.4:c.1253A= NP_001122062.3:p.Gln418=
NM_001368143.2:c.938A= NP_001355072.1:p.Gln313=
NM_001368144.2:c.938A= NP_001355073.1:p.Gln313=