Canonical Allele Identifier: CA971330792

Gene: HEXA

Linked Data

• dbSNP Id: rs1595797602
• gnomAD v3: 15-72347196-G-C
• gnomAD v4: 15-72347196-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347196G>C , CM000677.2:g.72347196G>C	GRCh38
NC_000015.9:g.72639537G>C , CM000677.1:g.72639537G>C	GRCh37
NC_000015.8:g.70426591G>C	NCBI36
NG_009017.1:g.33984C>G
NG_009017.2:g.33984C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+852C>G	ENSP00000457521.2:n.1073+852C>G
ENST00000682061.1:c.*809-486C>G	ENSP00000508316.1:n.*809-486C>G
ENST00000682064.1:n.3C>G
ENST00000682177.1:c.1190-486C>G	ENSP00000507409.1:n.1190-486C>G
ENST00000682461.1:c.1253-486C>G	ENSP00000507308.1:n.1253-486C>G
ENST00000682653.1:n.1467-486C>G
ENST00000682657.1:c.*483+852C>G	ENSP00000507753.1:n.*483+852C>G
ENST00000682721.1:c.*950-486C>G	ENSP00000507535.1:n.*950-486C>G
ENST00000682843.1:c.*971+852C>G	ENSP00000508173.1:n.*971+852C>G
ENST00000683003.1:c.*483+852C>G	ENSP00000507576.1:n.*483+852C>G
ENST00000683133.1:c.1331-486C>G	ENSP00000508108.1:n.1331-486C>G
ENST00000683243.1:c.*483+852C>G	ENSP00000507042.1:n.*483+852C>G
ENST00000683463.1:c.1074-486C>G	ENSP00000507986.1:n.1074-486C>G
ENST00000683548.1:n.1104+852C>G
ENST00000683579.1:c.*1045-486C>G	ENSP00000506867.1:n.*1045-486C>G
ENST00000683587.1:n.1177+490C>G
ENST00000683681.1:c.1147-486C>G	ENSP00000508110.1:n.1147-486C>G
ENST00000683735.1:c.*1044+490C>G	ENSP00000508336.1:n.*1044+490C>G
ENST00000683853.1:c.1074-486C>G	ENSP00000506834.1:n.1074-486C>G
ENST00000683860.1:c.1147-486C>G	ENSP00000507179.1:n.1147-486C>G
ENST00000683884.1:c.1146+490C>G	ENSP00000507004.1:n.1146+490C>G
ENST00000684041.1:c.1147-486C>G	ENSP00000508382.1:n.1147-486C>G
ENST00000684125.1:c.1073+852C>G	ENSP00000507320.1:n.1073+852C>G
ENST00000684203.1:n.2912-486C>G
ENST00000684231.1:c.*557-486C>G	ENSP00000507748.1:n.*557-486C>G
ENST00000684263.1:c.*87-486C>G	ENSP00000508369.1:n.*87-486C>G
ENST00000684305.1:c.1595-486C>G	ENSP00000506819.1:n.1595-486C>G
ENST00000684415.1:c.*14-486C>G	ENSP00000507227.1:n.*14-486C>G
ENST00000684520.1:c.1147-486C>G	ENSP00000506826.1:n.1147-486C>G
ENST00000684602.1:c.*813-486C>G	ENSP00000507996.1:n.*813-486C>G
ENST00000684667.1:c.1478-486C>G	ENSP00000507003.1:n.1478-486C>G
ENST00000268097.10:c.1147-486C>G MANE Select	ENSP00000268097.6:n.1147-486C>G
ENST00000268097.9:c.1147-486C>G	ENSP00000268097.5:n.1147-486C>G
ENST00000379915.4:c.413-871C>G	ENSP00000478716.1:n.413-871C>G
ENST00000563762.5:c.825+852C>G	ENSP00000456346.1:n.825+852C>G
ENST00000566304.5:c.1180-486C>G	ENSP00000455114.1:n.1180-486C>G
ENST00000566672.5:c.*557-486C>G	ENSP00000457037.1:n.*557-486C>G
ENST00000567027.5:c.945+852C>G
ENST00000567159.5:c.1147-486C>G	ENSP00000456489.1:n.1147-486C>G
ENST00000567411.5:c.*668-486C>G	ENSP00000455545.1:n.*668-486C>G
ENST00000568777.5:n.6550+490C>G
ENST00000569410.5:c.1074-486C>G	ENSP00000457125.1:n.1074-486C>G
NM_000520.4:c.1147-486C>G	NP_000511.2:n.1147-486C>G
NM_000520.5:c.1147-486C>G	NP_000511.2:n.1147-486C>G
NM_001318825.1:c.1180-486C>G	NP_001305754.1:n.1180-486C>G
NR_134869.1:n.1574+852C>G
NM_000520.6:c.1147-486C>G MANE Select	NP_000511.2:n.1147-486C>G
NM_001318825.2:c.1180-486C>G	NP_001305754.1:n.1180-486C>G
NR_134869.2:n.1115+852C>G
NR_134869.3:n.1115+852C>G