Canonical Allele Identifier: CA1619397356
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040191C= , CM000668.2:g.32040191C= GRCh38
NC_000006.11:g.32007968C= , CM000668.1:g.32007968C= GRCh37
NC_000006.10:g.32115947C= NCBI36
NG_007941.2:g.6884C=
NG_008337.2:g.74184G=
NG_007941.3:g.6887C=

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.925C= MANE Select ENSP00000496625.1:p.Leu309=
ENST00000418967.6:c.925C= ENSP00000408860.2:p.Leu309=
ENST00000435122.3:c.835C= ENSP00000415043.2:p.Leu279=
ENST00000479074.5:n.983C=
ENST00000479730.5:n.1041C=
ENST00000483041.5:n.1094C=
ENST00000486063.5:n.919-215C=
NM_000500.7:c.925C= NP_000491.4:p.Leu309=
NM_001128590.3:c.835C= NP_001122062.3:p.Leu279=
XM_011514314.1:c.520C= XP_011512616.1:p.Leu174=
NM_000500.9:c.925C= MANE Select NP_000491.4:p.Leu309=
NM_001368143.1:c.520C= NP_001355072.1:p.Leu174=
NM_001368144.1:c.520C= NP_001355073.1:p.Leu174=
NM_001128590.4:c.835C= NP_001122062.3:p.Leu279=
NM_001368143.2:c.520C= NP_001355072.1:p.Leu174=
NM_001368144.2:c.520C= NP_001355073.1:p.Leu174=