Canonical Allele Identifier: CA393065465

Gene: HEXA

Linked Data

• ClinVar Variation Id: 984038
• ClinVar RCV Id: RCV001264043
• dbSNP Id: rs2088732981
• MyVariant Identifiers: chr15:g.72646040C>A (hg19) ; chr15:g.72353699C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72353699C>A , CM000677.2:g.72353699C>A	GRCh38
NC_000015.9:g.72646040C>A , CM000677.1:g.72646040C>A	GRCh37
NC_000015.8:g.70433094C>A	NCBI36
NG_009017.1:g.27481G>T
NG_009017.2:g.27481G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.2285G>T
ENST00000567027.6:c.451G>T	ENSP00000457521.2:p.Glu151Ter
ENST00000568260.2:c.480-521G>T	ENSP00000458128.2:n.480-521G>T
ENST00000682061.1:c.*113G>T	ENSP00000508316.1:n.*113G>T
ENST00000682177.1:c.451G>T	ENSP00000507409.1:p.Glu151Ter
ENST00000682461.1:c.676+1860G>T	ENSP00000507308.1:n.676+1860G>T
ENST00000682653.1:n.482G>T
ENST00000682657.1:c.254-2465G>T	ENSP00000507753.1:n.254-2465G>T
ENST00000682721.1:c.*254G>T	ENSP00000507535.1:n.*254G>T
ENST00000682843.1:c.*349G>T	ENSP00000508173.1:n.*349G>T
ENST00000683003.1:c.412+1860G>T	ENSP00000507576.1:n.412+1860G>T
ENST00000683133.1:c.635G>T	ENSP00000508108.1:n.635G>T
ENST00000683228.1:n.482G>T
ENST00000683243.1:c.412+1860G>T	ENSP00000507042.1:n.412+1860G>T
ENST00000683463.1:c.451G>T	ENSP00000507986.1:p.Glu151Ter
ENST00000683548.1:n.482G>T
ENST00000683579.1:c.*349G>T	ENSP00000506867.1:n.*349G>T
ENST00000683587.1:n.482G>T
ENST00000683681.1:c.451G>T	ENSP00000508110.1:p.Glu151Ter
ENST00000683735.1:c.*349G>T	ENSP00000508336.1:n.*349G>T
ENST00000683853.1:c.451G>T	ENSP00000506834.1:p.Glu151Ter
ENST00000683860.1:c.451G>T	ENSP00000507179.1:p.Glu151Ter
ENST00000683884.1:c.451G>T	ENSP00000507004.1:p.Glu151Ter
ENST00000684041.1:c.451G>T	ENSP00000508382.1:p.Glu151Ter
ENST00000684125.1:c.451G>T	ENSP00000507320.1:p.Glu151Ter
ENST00000684203.1:n.2289G>T
ENST00000684231.1:c.412+1860G>T	ENSP00000507748.1:n.412+1860G>T
ENST00000684263.1:c.451G>T	ENSP00000508369.1:p.Glu151Ter
ENST00000684305.1:c.899G>T	ENSP00000506819.1:n.899G>T
ENST00000684415.1:c.451G>T	ENSP00000507227.1:p.Glu151Ter
ENST00000684520.1:c.451G>T	ENSP00000506826.1:p.Glu151Ter
ENST00000684602.1:c.*236+1860G>T	ENSP00000507996.1:n.*236+1860G>T
ENST00000684667.1:c.782G>T	ENSP00000507003.1:n.782G>T
ENST00000268097.10:c.451G>T MANE Select	ENSP00000268097.6:p.Glu151Ter
ENST00000268097.9:c.451G>T	ENSP00000268097.5:p.Glu151Ter
ENST00000379915.4:c.412+1860G>T	ENSP00000478716.1:n.412+1860G>T
ENST00000563762.5:c.503+1860G>T	ENSP00000456346.1:n.503+1860G>T
ENST00000566304.5:c.484G>T	ENSP00000455114.1:p.Glu162Ter
ENST00000566672.5:c.412+1860G>T	ENSP00000457037.1:n.412+1860G>T
ENST00000567027.5:c.323G>T
ENST00000567159.5:c.451G>T	ENSP00000456489.1:p.Glu151Ter
ENST00000567411.5:c.413-521G>T	ENSP00000455545.1:n.413-521G>T
ENST00000568260.1:c.461-521G>T
ENST00000568777.5:n.5855G>T
ENST00000569410.5:c.451G>T	ENSP00000457125.1:p.Glu151Ter
ENST00000569509.5:n.417+1860G>T
NM_000520.4:c.451G>T	NP_000511.2:p.Glu151Ter
NM_000520.5:c.451G>T	NP_000511.2:p.Glu151Ter
NM_001318825.1:c.484G>T	NP_001305754.1:p.Glu162Ter
NR_134869.1:n.952G>T
NM_000520.6:c.451G>T MANE Select	NP_000511.2:p.Glu151Ter
NM_001318825.2:c.484G>T	NP_001305754.1:p.Glu162Ter
NR_134869.2:n.493G>T
NR_134869.3:n.493G>T