Canonical Allele Identifier: CA1619399241
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040473C= , CM000668.2:g.32040473C= GRCh38
NC_000006.11:g.32008250C= , CM000668.1:g.32008250C= GRCh37
NC_000006.10:g.32116229C= NCBI36
NG_007941.2:g.7166C=
NG_008337.2:g.73902G=
NG_007941.3:g.7169C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1007C= MANE Select ENSP00000496625.1:p.Pro336=
ENST00000418967.6:c.1007C= ENSP00000408860.2:p.Pro336=
ENST00000435122.3:c.917C= ENSP00000415043.2:p.Pro306=
ENST00000479074.5:n.1065C=
ENST00000479730.5:n.1123C=
ENST00000483041.5:n.1176C=
ENST00000486063.5:n.986C=
NM_000500.7:c.1007C= NP_000491.4:p.Pro336=
NM_001128590.3:c.917C= NP_001122062.3:p.Pro306=
XM_011514314.1:c.602C= XP_011512616.1:p.Pro201=
NM_000500.9:c.1007C= MANE Select NP_000491.4:p.Pro336=
NM_001368143.1:c.602C= NP_001355072.1:p.Pro201=
NM_001368144.1:c.602C= NP_001355073.1:p.Pro201=
NM_001128590.4:c.917C= NP_001122062.3:p.Pro306=
NM_001368143.2:c.602C= NP_001355072.1:p.Pro201=
NM_001368144.2:c.602C= NP_001355073.1:p.Pro201=