Canonical Allele Identifier: CA393061759

Gene: HEXA

Linked Data

• ClinVar Variation Id: 1479900
• ClinVar RCV Id: RCV002009921
• dbSNP Id: rs2140321869
• MyVariant Identifiers: chr15:g.72640074C>T (hg19) ; chr15:g.72347733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347733C>T , CM000677.2:g.72347733C>T	GRCh38
NC_000015.9:g.72640074C>T , CM000677.1:g.72640074C>T	GRCh37
NC_000015.8:g.70427128C>T	NCBI36
NG_009017.1:g.33447G>A
NG_009017.2:g.33447G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+315G>A	ENSP00000457521.2:n.1073+315G>A
ENST00000682061.1:c.*761G>A	ENSP00000508316.1:n.*761G>A
ENST00000682177.1:c.1142G>A	ENSP00000507409.1:n.1142G>A
ENST00000682461.1:c.1205G>A	ENSP00000507308.1:n.1205G>A
ENST00000682653.1:n.1419G>A
ENST00000682657.1:c.*483+315G>A	ENSP00000507753.1:n.*483+315G>A
ENST00000682721.1:c.*902G>A	ENSP00000507535.1:n.*902G>A
ENST00000682843.1:c.*971+315G>A	ENSP00000508173.1:n.*971+315G>A
ENST00000683003.1:c.*483+315G>A	ENSP00000507576.1:n.*483+315G>A
ENST00000683133.1:c.1283G>A	ENSP00000508108.1:n.1283G>A
ENST00000683228.1:n.1130G>A
ENST00000683243.1:c.*483+315G>A	ENSP00000507042.1:n.*483+315G>A
ENST00000683463.1:c.1073+315G>A	ENSP00000507986.1:n.1073+315G>A
ENST00000683548.1:n.1104+315G>A
ENST00000683579.1:c.*997G>A	ENSP00000506867.1:n.*997G>A
ENST00000683587.1:n.1130G>A
ENST00000683681.1:c.1099G>A	ENSP00000508110.1:p.Gly367Ser
ENST00000683735.1:c.*997G>A	ENSP00000508336.1:n.*997G>A
ENST00000683742.1:n.930G>A
ENST00000683853.1:c.1073+315G>A	ENSP00000506834.1:n.1073+315G>A
ENST00000683860.1:c.1099G>A	ENSP00000507179.1:p.Gly367Ser
ENST00000683884.1:c.1099G>A	ENSP00000507004.1:p.Gly367Ser
ENST00000684041.1:c.1099G>A	ENSP00000508382.1:p.Gly367Ser
ENST00000684125.1:c.1073+315G>A	ENSP00000507320.1:n.1073+315G>A
ENST00000684203.1:n.2911+315G>A
ENST00000684231.1:c.*509G>A	ENSP00000507748.1:n.*509G>A
ENST00000684263.1:c.*39G>A	ENSP00000508369.1:n.*39G>A
ENST00000684305.1:c.1547G>A	ENSP00000506819.1:n.1547G>A
ENST00000684415.1:c.*13+298G>A	ENSP00000507227.1:n.*13+298G>A
ENST00000684520.1:c.1099G>A	ENSP00000506826.1:p.Gly367Ser
ENST00000684602.1:c.*765G>A	ENSP00000507996.1:n.*765G>A
ENST00000684667.1:c.1430G>A	ENSP00000507003.1:n.1430G>A
ENST00000268097.10:c.1099G>A MANE Select	ENSP00000268097.6:p.Gly367Ser
ENST00000268097.9:c.1099G>A	ENSP00000268097.5:p.Gly367Ser
ENST00000379915.4:c.413-1408G>A	ENSP00000478716.1:n.413-1408G>A
ENST00000563762.5:c.825+315G>A	ENSP00000456346.1:n.825+315G>A
ENST00000566304.5:c.1132G>A	ENSP00000455114.1:p.Gly378Ser
ENST00000566672.5:c.*509G>A	ENSP00000457037.1:n.*509G>A
ENST00000567027.5:c.945+315G>A
ENST00000567159.5:c.1099G>A	ENSP00000456489.1:p.Gly367Ser
ENST00000567411.5:c.*620G>A	ENSP00000455545.1:n.*620G>A
ENST00000568777.5:n.6503G>A
ENST00000569410.5:c.1073+315G>A	ENSP00000457125.1:n.1073+315G>A
NM_000520.4:c.1099G>A	NP_000511.2:p.Gly367Ser
NM_000520.5:c.1099G>A	NP_000511.2:p.Gly367Ser
NM_001318825.1:c.1132G>A	NP_001305754.1:p.Gly378Ser
NR_134869.1:n.1574+315G>A
NM_000520.6:c.1099G>A MANE Select	NP_000511.2:p.Gly367Ser
NM_001318825.2:c.1132G>A	NP_001305754.1:p.Gly378Ser
NR_134869.2:n.1115+315G>A
NR_134869.3:n.1115+315G>A