Canonical Allele Identifier: CA7644909

Gene: HEXA

Linked Data

• ClinVar Variation Id: 1141558
• ClinVar RCV Id: RCV001479009
• dbSNP Id: rs777460475
• ExAC: 15:72642929 G / A
• gnomAD v2: 15-72642929-G-A
• gnomAD v3: 15-72350588-G-A
• gnomAD v4: 15-72350588-G-A
• MyVariant Identifiers: chr15:g.72642929G>A (hg19) ; chr15:g.72350588G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72350588G>A , CM000677.2:g.72350588G>A	GRCh38
NC_000015.9:g.72642929G>A , CM000677.1:g.72642929G>A	GRCh37
NC_000015.8:g.70429983G>A	NCBI36
NG_009017.1:g.30592C>T
NG_009017.2:g.30592C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.3081C>T
ENST00000567027.6:c.735C>T	ENSP00000457521.2:p.Tyr245=
ENST00000682061.1:c.*397C>T	ENSP00000508316.1:n.*397C>T
ENST00000682177.1:c.778C>T	ENSP00000507409.1:n.778C>T
ENST00000682461.1:c.841C>T	ENSP00000507308.1:n.841C>T
ENST00000682653.1:n.766C>T
ENST00000682657.1:c.*145C>T	ENSP00000507753.1:n.*145C>T
ENST00000682721.1:c.*538C>T	ENSP00000507535.1:n.*538C>T
ENST00000682843.1:c.*633C>T	ENSP00000508173.1:n.*633C>T
ENST00000683003.1:c.*145C>T	ENSP00000507576.1:n.*145C>T
ENST00000683133.1:c.919C>T	ENSP00000508108.1:n.919C>T
ENST00000683228.1:n.766C>T
ENST00000683243.1:c.*145C>T	ENSP00000507042.1:n.*145C>T
ENST00000683463.1:c.735C>T	ENSP00000507986.1:p.Tyr245=
ENST00000683548.1:n.766C>T
ENST00000683579.1:c.*633C>T	ENSP00000506867.1:n.*633C>T
ENST00000683587.1:n.766C>T
ENST00000683681.1:c.735C>T	ENSP00000508110.1:p.Tyr245=
ENST00000683735.1:c.*633C>T	ENSP00000508336.1:n.*633C>T
ENST00000683742.1:n.566C>T
ENST00000683853.1:c.735C>T	ENSP00000506834.1:p.Tyr245=
ENST00000683860.1:c.735C>T	ENSP00000507179.1:p.Tyr245=
ENST00000683884.1:c.735C>T	ENSP00000507004.1:p.Tyr245=
ENST00000684041.1:c.735C>T	ENSP00000508382.1:p.Tyr245=
ENST00000684125.1:c.735C>T	ENSP00000507320.1:p.Tyr245=
ENST00000684203.1:n.2573C>T
ENST00000684231.1:c.*145C>T	ENSP00000507748.1:n.*145C>T
ENST00000684263.1:c.735C>T	ENSP00000508369.1:p.Tyr245=
ENST00000684305.1:c.1183C>T	ENSP00000506819.1:n.1183C>T
ENST00000684415.1:c.735C>T	ENSP00000507227.1:p.Tyr245=
ENST00000684520.1:c.735C>T	ENSP00000506826.1:p.Tyr245=
ENST00000684602.1:c.*401C>T	ENSP00000507996.1:n.*401C>T
ENST00000684667.1:c.1066C>T	ENSP00000507003.1:n.1066C>T
ENST00000268097.10:c.735C>T MANE Select	ENSP00000268097.6:p.Tyr245=
ENST00000268097.9:c.735C>T	ENSP00000268097.5:p.Tyr245=
ENST00000379915.4:c.413-4263C>T	ENSP00000478716.1:n.413-4263C>T
ENST00000563762.5:c.668C>T	ENSP00000456346.1:n.668C>T
ENST00000566304.5:c.768C>T	ENSP00000455114.1:p.Tyr256=
ENST00000566672.5:c.*145C>T	ENSP00000457037.1:n.*145C>T
ENST00000567027.5:c.607C>T
ENST00000567159.5:c.735C>T	ENSP00000456489.1:p.Tyr245=
ENST00000567411.5:c.*256C>T	ENSP00000455545.1:n.*256C>T
ENST00000568777.5:n.6139C>T
ENST00000569410.5:c.735C>T	ENSP00000457125.1:p.Tyr245=
ENST00000569509.5:n.582C>T
NM_000520.4:c.735C>T	NP_000511.2:p.Tyr245=
NM_000520.5:c.735C>T	NP_000511.2:p.Tyr245=
NM_001318825.1:c.768C>T	NP_001305754.1:p.Tyr256=
NR_134869.1:n.1236C>T
NM_000520.6:c.735C>T MANE Select	NP_000511.2:p.Tyr245=
NM_001318825.2:c.768C>T	NP_001305754.1:p.Tyr256=
NR_134869.2:n.777C>T
NR_134869.3:n.777C>T