Canonical Allele Identifier: CA7644794

Gene: HEXA

Linked Data

• dbSNP Id: rs760355218
• ExAC: 15:72640044 A / C
• gnomAD v2: 15-72640044-A-C
• MyVariant Identifiers: chr15:g.72640044A>C (hg19) ; chr15:g.72347703A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347703A>C , CM000677.2:g.72347703A>C	GRCh38
NC_000015.9:g.72640044A>C , CM000677.1:g.72640044A>C	GRCh37
NC_000015.8:g.70427098A>C	NCBI36
NG_009017.1:g.33477T>G
NG_009017.2:g.33477T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+345T>G	ENSP00000457521.2:n.1073+345T>G
ENST00000682061.1:c.*791T>G	ENSP00000508316.1:n.*791T>G
ENST00000682177.1:c.1172T>G	ENSP00000507409.1:n.1172T>G
ENST00000682461.1:c.1235T>G	ENSP00000507308.1:n.1235T>G
ENST00000682653.1:n.1449T>G
ENST00000682657.1:c.*483+345T>G	ENSP00000507753.1:n.*483+345T>G
ENST00000682721.1:c.*932T>G	ENSP00000507535.1:n.*932T>G
ENST00000682843.1:c.*971+345T>G	ENSP00000508173.1:n.*971+345T>G
ENST00000683003.1:c.*483+345T>G	ENSP00000507576.1:n.*483+345T>G
ENST00000683133.1:c.1313T>G	ENSP00000508108.1:n.1313T>G
ENST00000683228.1:n.1160T>G
ENST00000683243.1:c.*483+345T>G	ENSP00000507042.1:n.*483+345T>G
ENST00000683463.1:c.1073+345T>G	ENSP00000507986.1:n.1073+345T>G
ENST00000683548.1:n.1104+345T>G
ENST00000683579.1:c.*1027T>G	ENSP00000506867.1:n.*1027T>G
ENST00000683587.1:n.1160T>G
ENST00000683681.1:c.1129T>G	ENSP00000508110.1:p.Phe377Val
ENST00000683735.1:c.*1027T>G	ENSP00000508336.1:n.*1027T>G
ENST00000683742.1:n.960T>G
ENST00000683853.1:c.1073+345T>G	ENSP00000506834.1:n.1073+345T>G
ENST00000683860.1:c.1129T>G	ENSP00000507179.1:p.Phe377Val
ENST00000683884.1:c.1129T>G	ENSP00000507004.1:p.Phe377Val
ENST00000684041.1:c.1129T>G	ENSP00000508382.1:p.Phe377Val
ENST00000684125.1:c.1073+345T>G	ENSP00000507320.1:n.1073+345T>G
ENST00000684203.1:n.2911+345T>G
ENST00000684231.1:c.*539T>G	ENSP00000507748.1:n.*539T>G
ENST00000684263.1:c.*69T>G	ENSP00000508369.1:n.*69T>G
ENST00000684305.1:c.1577T>G	ENSP00000506819.1:n.1577T>G
ENST00000684415.1:c.*13+328T>G	ENSP00000507227.1:n.*13+328T>G
ENST00000684520.1:c.1129T>G	ENSP00000506826.1:p.Phe377Val
ENST00000684602.1:c.*795T>G	ENSP00000507996.1:n.*795T>G
ENST00000684667.1:c.1460T>G	ENSP00000507003.1:n.1460T>G
ENST00000268097.10:c.1129T>G MANE Select	ENSP00000268097.6:p.Phe377Val
ENST00000268097.9:c.1129T>G	ENSP00000268097.5:p.Phe377Val
ENST00000379915.4:c.413-1378T>G	ENSP00000478716.1:n.413-1378T>G
ENST00000563762.5:c.825+345T>G	ENSP00000456346.1:n.825+345T>G
ENST00000566304.5:c.1162T>G	ENSP00000455114.1:p.Phe388Val
ENST00000566672.5:c.*539T>G	ENSP00000457037.1:n.*539T>G
ENST00000567027.5:c.945+345T>G
ENST00000567159.5:c.1129T>G	ENSP00000456489.1:p.Phe377Val
ENST00000567411.5:c.*650T>G	ENSP00000455545.1:n.*650T>G
ENST00000568777.5:n.6533T>G
ENST00000569410.5:c.1073+345T>G	ENSP00000457125.1:n.1073+345T>G
NM_000520.4:c.1129T>G	NP_000511.2:p.Phe377Val
NM_000520.5:c.1129T>G	NP_000511.2:p.Phe377Val
NM_001318825.1:c.1162T>G	NP_001305754.1:p.Phe388Val
NR_134869.1:n.1574+345T>G
NM_000520.6:c.1129T>G MANE Select	NP_000511.2:p.Phe377Val
NM_001318825.2:c.1162T>G	NP_001305754.1:p.Phe388Val
NR_134869.2:n.1115+345T>G
NR_134869.3:n.1115+345T>G