Canonical Allele Identifier: CA363503095

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 800622
• ClinVar RCV Id: RCV000984600
• dbSNP Id: rs1582304536
• MyVariant Identifiers: chr6:g.32007210C>A (hg19) ; chr6:g.32039433C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039433C>A , CM000668.2:g.32039433C>A	GRCh38
NC_000006.11:g.32007210C>A , CM000668.1:g.32007210C>A	GRCh37
NC_000006.10:g.32115189C>A	NCBI36
NG_007941.2:g.6126C>A
NG_008337.2:g.74942G>T
NG_007941.3:g.6129C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.525C>A MANE Select	ENSP00000496625.1:p.Tyr175Ter
ENST00000418967.6:c.525C>A	ENSP00000408860.2:p.Tyr175Ter
ENST00000435122.3:c.435C>A	ENSP00000415043.2:p.Tyr145Ter
ENST00000462278.1:n.113C>A
ENST00000464325.5:n.446C>A
ENST00000466779.5:c.*217C>A	ENSP00000417321.1:n.*217C>A
ENST00000466879.5:n.576C>A
ENST00000469053.5:c.*217C>A	ENSP00000418104.1:n.*217C>A
ENST00000471671.4:c.525C>A	ENSP00000418561.1:p.Tyr175Ter
ENST00000478281.5:c.558C>A	ENSP00000419572.1:p.Tyr186Ter
ENST00000479074.5:n.583C>A
ENST00000479730.5:n.680C>A
ENST00000483041.5:n.694C>A
ENST00000486063.5:n.705C>A
ENST00000488465.1:n.533C>A
NM_000500.7:c.525C>A	NP_000491.4:p.Tyr175Ter
NM_001128590.3:c.435C>A	NP_001122062.3:p.Tyr145Ter
XM_011514314.1:c.120C>A	XP_011512616.1:p.Tyr40Ter
NM_000500.9:c.525C>A MANE Select	NP_000491.4:p.Tyr175Ter
NM_001368143.1:c.120C>A	NP_001355072.1:p.Tyr40Ter
NM_001368144.1:c.120C>A	NP_001355073.1:p.Tyr40Ter
NM_001128590.4:c.435C>A	NP_001122062.3:p.Tyr145Ter
NM_001368143.2:c.120C>A	NP_001355072.1:p.Tyr40Ter
NM_001368144.2:c.120C>A	NP_001355073.1:p.Tyr40Ter