Canonical Allele Identifier: CA1619399221
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040438C= , CM000668.2:g.32040438C= GRCh38
NC_000006.11:g.32008215C= , CM000668.1:g.32008215C= GRCh37
NC_000006.10:g.32116194C= NCBI36
NG_007941.2:g.7131C=
NG_008337.2:g.73937G=
NG_007941.3:g.7134C=

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.972C= MANE Select ENSP00000496625.1:p.His324=
ENST00000418967.6:c.972C= ENSP00000408860.2:p.His324=
ENST00000435122.3:c.882C= ENSP00000415043.2:p.His294=
ENST00000479074.5:n.1030C=
ENST00000479730.5:n.1088C=
ENST00000483041.5:n.1141C=
ENST00000486063.5:n.951C=
NM_000500.7:c.972C= NP_000491.4:p.His324=
NM_001128590.3:c.882C= NP_001122062.3:p.His294=
XM_011514314.1:c.567C= XP_011512616.1:p.His189=
NM_000500.9:c.972C= MANE Select NP_000491.4:p.His324=
NM_001368143.1:c.567C= NP_001355072.1:p.His189=
NM_001368144.1:c.567C= NP_001355073.1:p.His189=
NM_001128590.4:c.882C= NP_001122062.3:p.His294=
NM_001368143.2:c.567C= NP_001355072.1:p.His189=
NM_001368144.2:c.567C= NP_001355073.1:p.His189=