Canonical Allele Identifier: CA7644788

Gene: HEXA

Linked Data

• ClinVar Variation Id: 2168910
• ClinVar RCV Id: RCV003082805
• dbSNP Id: rs746272701
• ExAC: 15:72640031 A / T
• gnomAD v2: 15-72640031-A-T
• gnomAD v4: 15-72347690-A-T
• MyVariant Identifiers: chr15:g.72640031A>T (hg19) ; chr15:g.72347690A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347690A>T , CM000677.2:g.72347690A>T	GRCh38
NC_000015.9:g.72640031A>T , CM000677.1:g.72640031A>T	GRCh37
NC_000015.8:g.70427085A>T	NCBI36
NG_009017.1:g.33490T>A
NG_009017.2:g.33490T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.1073+358T>A	ENSP00000457521.2:n.1073+358T>A
ENST00000682061.1:c.*804T>A	ENSP00000508316.1:n.*804T>A
ENST00000682177.1:c.1185T>A	ENSP00000507409.1:n.1185T>A
ENST00000682461.1:c.1248T>A	ENSP00000507308.1:n.1248T>A
ENST00000682653.1:n.1462T>A
ENST00000682657.1:c.*483+358T>A	ENSP00000507753.1:n.*483+358T>A
ENST00000682721.1:c.*945T>A	ENSP00000507535.1:n.*945T>A
ENST00000682843.1:c.*971+358T>A	ENSP00000508173.1:n.*971+358T>A
ENST00000683003.1:c.*483+358T>A	ENSP00000507576.1:n.*483+358T>A
ENST00000683133.1:c.1326T>A	ENSP00000508108.1:n.1326T>A
ENST00000683228.1:n.1173T>A
ENST00000683243.1:c.*483+358T>A	ENSP00000507042.1:n.*483+358T>A
ENST00000683463.1:c.1073+358T>A	ENSP00000507986.1:n.1073+358T>A
ENST00000683548.1:n.1104+358T>A
ENST00000683579.1:c.*1040T>A	ENSP00000506867.1:n.*1040T>A
ENST00000683587.1:n.1173T>A
ENST00000683681.1:c.1142T>A	ENSP00000508110.1:p.Val381Glu
ENST00000683735.1:c.*1040T>A	ENSP00000508336.1:n.*1040T>A
ENST00000683742.1:n.973T>A
ENST00000683853.1:c.1073+358T>A	ENSP00000506834.1:n.1073+358T>A
ENST00000683860.1:c.1142T>A	ENSP00000507179.1:p.Val381Glu
ENST00000683884.1:c.1142T>A	ENSP00000507004.1:p.Val381Glu
ENST00000684041.1:c.1142T>A	ENSP00000508382.1:p.Val381Glu
ENST00000684125.1:c.1073+358T>A	ENSP00000507320.1:n.1073+358T>A
ENST00000684203.1:n.2911+358T>A
ENST00000684231.1:c.*552T>A	ENSP00000507748.1:n.*552T>A
ENST00000684263.1:c.*82T>A	ENSP00000508369.1:n.*82T>A
ENST00000684305.1:c.1590T>A	ENSP00000506819.1:n.1590T>A
ENST00000684415.1:c.*13+341T>A	ENSP00000507227.1:n.*13+341T>A
ENST00000684520.1:c.1142T>A	ENSP00000506826.1:p.Val381Glu
ENST00000684602.1:c.*808T>A	ENSP00000507996.1:n.*808T>A
ENST00000684667.1:c.1473T>A	ENSP00000507003.1:n.1473T>A
ENST00000268097.10:c.1142T>A MANE Select	ENSP00000268097.6:p.Val381Glu
ENST00000268097.9:c.1142T>A	ENSP00000268097.5:p.Val381Glu
ENST00000379915.4:c.413-1365T>A	ENSP00000478716.1:n.413-1365T>A
ENST00000563762.5:c.825+358T>A	ENSP00000456346.1:n.825+358T>A
ENST00000566304.5:c.1175T>A	ENSP00000455114.1:p.Val392Glu
ENST00000566672.5:c.*552T>A	ENSP00000457037.1:n.*552T>A
ENST00000567027.5:c.945+358T>A
ENST00000567159.5:c.1142T>A	ENSP00000456489.1:p.Val381Glu
ENST00000567411.5:c.*663T>A	ENSP00000455545.1:n.*663T>A
ENST00000568777.5:n.6546T>A
ENST00000569410.5:c.1073+358T>A	ENSP00000457125.1:n.1073+358T>A
NM_000520.4:c.1142T>A	NP_000511.2:p.Val381Glu
NM_000520.5:c.1142T>A	NP_000511.2:p.Val381Glu
NM_001318825.1:c.1175T>A	NP_001305754.1:p.Val392Glu
NR_134869.1:n.1574+358T>A
NM_000520.6:c.1142T>A MANE Select	NP_000511.2:p.Val381Glu
NM_001318825.2:c.1175T>A	NP_001305754.1:p.Val392Glu
NR_134869.2:n.1115+358T>A
NR_134869.3:n.1115+358T>A