Canonical Allele Identifier: CA272612867

Gene: HEXA

Linked Data

• ClinVar Variation Id: 496013
• ClinVar RCV Id: RCV000586917 ; RCV001834856
• dbSNP Id: rs387906310
• gnomAD v2: 15-72643572-C-T
• gnomAD v3: 15-72351231-C-T
• gnomAD v4: 15-72351231-C-T
• MyVariant Identifiers: chr15:g.72643572C>T (hg19) ; chr15:g.72351231C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72351231C>T , CM000677.2:g.72351231C>T	GRCh38
NC_000015.9:g.72643572C>T , CM000677.1:g.72643572C>T	GRCh37
NC_000015.8:g.70430626C>T	NCBI36
NG_009017.1:g.29949G>A
NG_009017.2:g.29949G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.2920G>A
ENST00000567027.6:c.574G>A	ENSP00000457521.2:p.Val192Ile
ENST00000568260.2:c.594G>A	ENSP00000458128.2:n.594G>A
ENST00000682061.1:c.*236G>A	ENSP00000508316.1:n.*236G>A
ENST00000682177.1:c.574G>A	ENSP00000507409.1:p.Val192Ile
ENST00000682461.1:c.680G>A	ENSP00000507308.1:n.680G>A
ENST00000682653.1:n.605G>A
ENST00000682657.1:c.257G>A	ENSP00000507753.1:p.Cys86Tyr
ENST00000682721.1:c.*377G>A	ENSP00000507535.1:n.*377G>A
ENST00000682843.1:c.*472G>A	ENSP00000508173.1:n.*472G>A
ENST00000683003.1:c.416G>A	ENSP00000507576.1:p.Cys139Tyr
ENST00000683133.1:c.758G>A	ENSP00000508108.1:n.758G>A
ENST00000683228.1:n.605G>A
ENST00000683243.1:c.416G>A	ENSP00000507042.1:p.Cys139Tyr
ENST00000683463.1:c.574G>A	ENSP00000507986.1:p.Val192Ile
ENST00000683548.1:n.605G>A
ENST00000683579.1:c.*472G>A	ENSP00000506867.1:n.*472G>A
ENST00000683587.1:n.605G>A
ENST00000683681.1:c.574G>A	ENSP00000508110.1:p.Val192Ile
ENST00000683735.1:c.*472G>A	ENSP00000508336.1:n.*472G>A
ENST00000683742.1:n.405G>A
ENST00000683853.1:c.574G>A	ENSP00000506834.1:p.Val192Ile
ENST00000683860.1:c.574G>A	ENSP00000507179.1:p.Val192Ile
ENST00000683884.1:c.574G>A	ENSP00000507004.1:p.Val192Ile
ENST00000684041.1:c.574G>A	ENSP00000508382.1:p.Val192Ile
ENST00000684125.1:c.574G>A	ENSP00000507320.1:p.Val192Ile
ENST00000684203.1:n.2412G>A
ENST00000684231.1:c.416G>A	ENSP00000507748.1:p.Cys139Tyr
ENST00000684263.1:c.574G>A	ENSP00000508369.1:p.Val192Ile
ENST00000684305.1:c.1022G>A	ENSP00000506819.1:n.1022G>A
ENST00000684415.1:c.574G>A	ENSP00000507227.1:p.Val192Ile
ENST00000684520.1:c.574G>A	ENSP00000506826.1:p.Val192Ile
ENST00000684602.1:c.*240G>A	ENSP00000507996.1:n.*240G>A
ENST00000684667.1:c.905G>A	ENSP00000507003.1:n.905G>A
ENST00000268097.10:c.574G>A MANE Select	ENSP00000268097.6:p.Val192Ile
ENST00000268097.9:c.574G>A	ENSP00000268097.5:p.Val192Ile
ENST00000379915.4:c.412+4328G>A	ENSP00000478716.1:n.412+4328G>A
ENST00000563762.5:c.507G>A	ENSP00000456346.1:n.507G>A
ENST00000566304.5:c.607G>A	ENSP00000455114.1:p.Val203Ile
ENST00000566672.5:c.416G>A	ENSP00000457037.1:p.Cys139Tyr
ENST00000567027.5:c.446G>A
ENST00000567159.5:c.574G>A	ENSP00000456489.1:p.Val192Ile
ENST00000567411.5:c.*95G>A	ENSP00000455545.1:n.*95G>A
ENST00000568260.1:c.575G>A
ENST00000568777.5:n.5978G>A
ENST00000569410.5:c.574G>A	ENSP00000457125.1:p.Val192Ile
ENST00000569509.5:n.421G>A
NM_000520.4:c.574G>A	NP_000511.2:p.Val192Ile
NM_000520.5:c.574G>A	NP_000511.2:p.Val192Ile
NM_001318825.1:c.607G>A	NP_001305754.1:p.Val203Ile
NR_134869.1:n.1075G>A
NM_000520.6:c.574G>A MANE Select	NP_000511.2:p.Val192Ile
NM_001318825.2:c.607G>A	NP_001305754.1:p.Val203Ile
NR_134869.2:n.616G>A
NR_134869.3:n.616G>A