Canonical Allele Identifier: CA2804700024

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347191T>A , CM000677.2:g.72347191T>A	GRCh38
NC_000015.9:g.72639532T>A , CM000677.1:g.72639532T>A	GRCh37
NC_000015.8:g.70426586T>A	NCBI36
NG_009017.1:g.33989A>T
NG_009017.2:g.33989A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+857A>T	ENSP00000457521.2:n.1073+857A>T
ENST00000682061.1:c.*809-481A>T	ENSP00000508316.1:n.*809-481A>T
ENST00000682064.1:n.8A>T
ENST00000682177.1:c.1190-481A>T	ENSP00000507409.1:n.1190-481A>T
ENST00000682235.1:n.5A>T
ENST00000682461.1:c.1253-481A>T	ENSP00000507308.1:n.1253-481A>T
ENST00000682653.1:n.1467-481A>T
ENST00000682657.1:c.*483+857A>T	ENSP00000507753.1:n.*483+857A>T
ENST00000682721.1:c.*950-481A>T	ENSP00000507535.1:n.*950-481A>T
ENST00000682843.1:c.*971+857A>T	ENSP00000508173.1:n.*971+857A>T
ENST00000683003.1:c.*483+857A>T	ENSP00000507576.1:n.*483+857A>T
ENST00000683133.1:c.1331-481A>T	ENSP00000508108.1:n.1331-481A>T
ENST00000683243.1:c.*483+857A>T	ENSP00000507042.1:n.*483+857A>T
ENST00000683463.1:c.1074-481A>T	ENSP00000507986.1:n.1074-481A>T
ENST00000683548.1:n.1104+857A>T
ENST00000683579.1:c.*1045-481A>T	ENSP00000506867.1:n.*1045-481A>T
ENST00000683587.1:n.1177+495A>T
ENST00000683681.1:c.1147-481A>T	ENSP00000508110.1:n.1147-481A>T
ENST00000683735.1:c.*1044+495A>T	ENSP00000508336.1:n.*1044+495A>T
ENST00000683853.1:c.1074-481A>T	ENSP00000506834.1:n.1074-481A>T
ENST00000683860.1:c.1147-481A>T	ENSP00000507179.1:n.1147-481A>T
ENST00000683884.1:c.1146+495A>T	ENSP00000507004.1:n.1146+495A>T
ENST00000684041.1:c.1147-481A>T	ENSP00000508382.1:n.1147-481A>T
ENST00000684125.1:c.1073+857A>T	ENSP00000507320.1:n.1073+857A>T
ENST00000684203.1:n.2912-481A>T
ENST00000684231.1:c.*557-481A>T	ENSP00000507748.1:n.*557-481A>T
ENST00000684263.1:c.*87-481A>T	ENSP00000508369.1:n.*87-481A>T
ENST00000684305.1:c.1595-481A>T	ENSP00000506819.1:n.1595-481A>T
ENST00000684415.1:c.*14-481A>T	ENSP00000507227.1:n.*14-481A>T
ENST00000684520.1:c.1147-481A>T	ENSP00000506826.1:n.1147-481A>T
ENST00000684602.1:c.*813-481A>T	ENSP00000507996.1:n.*813-481A>T
ENST00000684667.1:c.1478-481A>T	ENSP00000507003.1:n.1478-481A>T
ENST00000268097.10:c.1147-481A>T MANE Select	ENSP00000268097.6:n.1147-481A>T
ENST00000268097.9:c.1147-481A>T	ENSP00000268097.5:n.1147-481A>T
ENST00000379915.4:c.413-866A>T	ENSP00000478716.1:n.413-866A>T
ENST00000563762.5:c.825+857A>T	ENSP00000456346.1:n.825+857A>T
ENST00000566304.5:c.1180-481A>T	ENSP00000455114.1:n.1180-481A>T
ENST00000566672.5:c.*557-481A>T	ENSP00000457037.1:n.*557-481A>T
ENST00000567027.5:c.945+857A>T
ENST00000567159.5:c.1147-481A>T	ENSP00000456489.1:n.1147-481A>T
ENST00000567411.5:c.*668-481A>T	ENSP00000455545.1:n.*668-481A>T
ENST00000568777.5:n.6550+495A>T
ENST00000569410.5:c.1074-481A>T	ENSP00000457125.1:n.1074-481A>T
NM_000520.4:c.1147-481A>T	NP_000511.2:n.1147-481A>T
NM_000520.5:c.1147-481A>T	NP_000511.2:n.1147-481A>T
NM_001318825.1:c.1180-481A>T	NP_001305754.1:n.1180-481A>T
NR_134869.1:n.1574+857A>T
NM_000520.6:c.1147-481A>T MANE Select	NP_000511.2:n.1147-481A>T
NM_001318825.2:c.1180-481A>T	NP_001305754.1:n.1180-481A>T
NR_134869.2:n.1115+857A>T
NR_134869.3:n.1115+857A>T