Canonical Allele Identifier: CA363502960

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039417G>A , CM000668.2:g.32039417G>A	GRCh38
NC_000006.11:g.32007194G>A , CM000668.1:g.32007194G>A	GRCh37
NC_000006.10:g.32115173G>A	NCBI36
NG_007941.2:g.6110G>A
NG_008337.2:g.74958C>T
NG_007941.3:g.6113G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000500.9:c.509G>A MANE Select	NP_000491.4:p.Cys170Tyr
ENST00000644719.2:c.509G>A MANE Select	ENSP00000496625.1:p.Cys170Tyr
NM_000500.7:c.509G>A	NP_000491.4:p.Cys170Tyr
NM_001128590.3:c.419G>A	NP_001122062.3:p.Cys140Tyr
NM_001128590.4:c.419G>A	NP_001122062.3:p.Cys140Tyr
NM_001368143.1:c.104G>A	NP_001355072.1:p.Cys35Tyr
NM_001368143.2:c.104G>A	NP_001355072.1:p.Cys35Tyr
NM_001368144.1:c.104G>A	NP_001355073.1:p.Cys35Tyr
NM_001368144.2:c.104G>A	NP_001355073.1:p.Cys35Tyr
ENST00000418967.6:c.509G>A	ENSP00000408860.2:p.Cys170Tyr
ENST00000435122.3:c.419G>A	ENSP00000415043.2:p.Cys140Tyr
ENST00000462278.1:n.97G>A
ENST00000464325.5:n.430G>A
ENST00000466779.5:c.*201G>A	ENSP00000417321.1:n.*201G>A
ENST00000466879.5:n.560G>A
ENST00000469053.5:c.*201G>A	ENSP00000418104.1:n.*201G>A
ENST00000471671.4:c.509G>A	ENSP00000418561.1:p.Cys170Tyr
ENST00000478281.5:c.542G>A	ENSP00000419572.1:p.Cys181Tyr
ENST00000479074.5:n.567G>A
ENST00000479730.5:n.664G>A
ENST00000483041.5:n.678G>A
ENST00000486063.5:n.689G>A
ENST00000488465.1:n.517G>A
XM_011514314.1:c.104G>A	XP_011512616.1:p.Cys35Tyr