Canonical Allele Identifier: CA1619399383
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040750A= , CM000668.2:g.32040750A= GRCh38
NC_000006.11:g.32008527A= , CM000668.1:g.32008527A= GRCh37
NC_000006.10:g.32116506A= NCBI36
NG_007941.2:g.7443A=
NG_008337.2:g.73625T=
NG_007941.3:g.7446A=

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1201A= MANE Select ENSP00000496625.1:p.Arg401=
ENST00000418967.6:c.1201A= ENSP00000408860.2:p.Arg401=
ENST00000435122.3:c.1111A= ENSP00000415043.2:p.Arg371=
ENST00000479074.5:n.1342A=
ENST00000479730.5:n.1317A=
ENST00000483041.5:n.1370A=
ENST00000486063.5:n.1180A=
NM_000500.7:c.1201A= NP_000491.4:p.Arg401=
NM_001128590.3:c.1111A= NP_001122062.3:p.Arg371=
XM_011514314.1:c.796A= XP_011512616.1:p.Arg266=
NM_000500.9:c.1201A= MANE Select NP_000491.4:p.Arg401=
NM_001368143.1:c.796A= NP_001355072.1:p.Arg266=
NM_001368144.1:c.796A= NP_001355073.1:p.Arg266=
NM_001128590.4:c.1111A= NP_001122062.3:p.Arg371=
NM_001368143.2:c.796A= NP_001355072.1:p.Arg266=
NM_001368144.2:c.796A= NP_001355073.1:p.Arg266=