Canonical Allele Identifier: CA363499163

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32038556-T-A
• MyVariant Identifiers: chr6:g.32006333T>A (hg19) ; chr6:g.32038556T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038556T>A , CM000668.2:g.32038556T>A	GRCh38
NC_000006.11:g.32006333T>A , CM000668.1:g.32006333T>A	GRCh37
NC_000006.10:g.32114312T>A	NCBI36
NG_007941.2:g.5249T>A
NG_007941.3:g.5252T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.134T>A MANE Select	ENSP00000496625.1:p.Leu45His
ENST00000418967.6:c.134T>A	ENSP00000408860.2:p.Leu45His
ENST00000435122.3:c.134T>A	ENSP00000415043.2:p.Leu45His
ENST00000466779.5:c.134T>A	ENSP00000417321.1:p.Leu45His
ENST00000469053.5:c.134T>A	ENSP00000418104.1:p.Leu45His
ENST00000471671.4:c.134T>A	ENSP00000418561.1:p.Leu45His
ENST00000478281.5:c.134T>A	ENSP00000419572.1:p.Leu45His
ENST00000479074.5:n.192T>A
ENST00000479730.5:n.192T>A
ENST00000480027.1:n.187T>A
ENST00000483041.5:n.187T>A
ENST00000486063.5:n.217T>A
ENST00000488465.1:n.142T>A
NM_000500.7:c.134T>A	NP_000491.4:p.Leu45His
NM_001128590.3:c.134T>A	NP_001122062.3:p.Leu45His
XM_011514314.1:c.-291T>A	XP_011512616.1:n.-291T>A
NM_000500.9:c.134T>A MANE Select	NP_000491.4:p.Leu45His
NM_001368143.1:c.-291T>A	NP_001355072.1:n.-291T>A
NM_001368144.1:c.-201T>A	NP_001355073.1:n.-201T>A
NM_001128590.4:c.134T>A	NP_001122062.3:p.Leu45His
NM_001368143.2:c.-291T>A	NP_001355072.1:n.-291T>A
NM_001368144.2:c.-201T>A	NP_001355073.1:n.-201T>A