Canonical Allele Identifier: CA393066870

Gene: HEXA

Linked Data

• ClinVar Variation Id: 918074
• ClinVar RCV Id: RCV001175332
• dbSNP Id: rs1282031681
• MyVariant Identifiers: chr15:g.72647965T>C (hg19) ; chr15:g.72355624T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72355624T>C , CM000677.2:g.72355624T>C	GRCh38
NC_000015.9:g.72647965T>C , CM000677.1:g.72647965T>C	GRCh37
NC_000015.8:g.70435019T>C	NCBI36
NG_009017.1:g.25556A>G
NG_009017.2:g.25556A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.360A>G
ENST00000567027.6:c.347A>G	ENSP00000457521.2:p.Tyr116Cys
ENST00000568260.2:c.414A>G	ENSP00000458128.2:n.414A>G
ENST00000682061.1:c.*9A>G	ENSP00000508316.1:n.*9A>G
ENST00000682177.1:c.347A>G	ENSP00000507409.1:p.Tyr116Cys
ENST00000682461.1:c.611A>G	ENSP00000507308.1:n.611A>G
ENST00000682653.1:n.378A>G
ENST00000682657.1:c.254-4390A>G	ENSP00000507753.1:n.254-4390A>G
ENST00000682721.1:c.*150A>G	ENSP00000507535.1:n.*150A>G
ENST00000682843.1:c.*245A>G	ENSP00000508173.1:n.*245A>G
ENST00000683003.1:c.347A>G	ENSP00000507576.1:p.Tyr116Cys
ENST00000683133.1:c.531A>G	ENSP00000508108.1:n.531A>G
ENST00000683228.1:n.378A>G
ENST00000683243.1:c.347A>G	ENSP00000507042.1:p.Tyr116Cys
ENST00000683463.1:c.347A>G	ENSP00000507986.1:p.Tyr116Cys
ENST00000683548.1:n.378A>G
ENST00000683579.1:c.*245A>G	ENSP00000506867.1:n.*245A>G
ENST00000683587.1:n.378A>G
ENST00000683681.1:c.347A>G	ENSP00000508110.1:p.Tyr116Cys
ENST00000683735.1:c.*245A>G	ENSP00000508336.1:n.*245A>G
ENST00000683853.1:c.347A>G	ENSP00000506834.1:p.Tyr116Cys
ENST00000683860.1:c.347A>G	ENSP00000507179.1:p.Tyr116Cys
ENST00000683884.1:c.347A>G	ENSP00000507004.1:p.Tyr116Cys
ENST00000684041.1:c.347A>G	ENSP00000508382.1:p.Tyr116Cys
ENST00000684125.1:c.347A>G	ENSP00000507320.1:p.Tyr116Cys
ENST00000684203.1:n.364A>G
ENST00000684231.1:c.347A>G	ENSP00000507748.1:p.Tyr116Cys
ENST00000684263.1:c.347A>G	ENSP00000508369.1:p.Tyr116Cys
ENST00000684305.1:c.795A>G	ENSP00000506819.1:n.795A>G
ENST00000684415.1:c.347A>G	ENSP00000507227.1:p.Tyr116Cys
ENST00000684520.1:c.347A>G	ENSP00000506826.1:p.Tyr116Cys
ENST00000684602.1:c.*171A>G	ENSP00000507996.1:n.*171A>G
ENST00000684667.1:c.678A>G	ENSP00000507003.1:n.678A>G
ENST00000268097.10:c.347A>G MANE Select	ENSP00000268097.6:p.Tyr116Cys
ENST00000268097.9:c.347A>G	ENSP00000268097.5:p.Tyr116Cys
ENST00000379915.4:c.347A>G	ENSP00000478716.1:p.Tyr116Cys
ENST00000563762.5:c.438A>G	ENSP00000456346.1:n.438A>G
ENST00000563908.1:n.344A>G
ENST00000566304.5:c.380A>G	ENSP00000455114.1:p.Tyr127Cys
ENST00000566672.5:c.347A>G	ENSP00000457037.1:p.Tyr116Cys
ENST00000567027.5:c.219A>G
ENST00000567159.5:c.347A>G	ENSP00000456489.1:p.Tyr116Cys
ENST00000567411.5:c.347A>G	ENSP00000455545.1:p.Tyr116Cys
ENST00000568260.1:c.395A>G
ENST00000568777.5:n.3930A>G
ENST00000569410.5:c.347A>G	ENSP00000457125.1:p.Tyr116Cys
ENST00000569509.5:n.352A>G
NM_000520.4:c.347A>G	NP_000511.2:p.Tyr116Cys
NM_000520.5:c.347A>G	NP_000511.2:p.Tyr116Cys
NM_001318825.1:c.380A>G	NP_001305754.1:p.Tyr127Cys
NR_134869.1:n.848A>G
NM_000520.6:c.347A>G MANE Select	NP_000511.2:p.Tyr116Cys
NM_001318825.2:c.380A>G	NP_001305754.1:p.Tyr127Cys
NR_134869.2:n.389A>G
NR_134869.3:n.389A>G