Canonical Allele Identifier: CA7644789

Gene: HEXA

Linked Data

• ClinVar Variation Id: 2168914
• ClinVar RCV Id: RCV003082807
• dbSNP Id: rs770176144
• ExAC: 15:72640037 T / C
• gnomAD v2: 15-72640037-T-C
• gnomAD v4: 15-72347696-T-C
• MyVariant Identifiers: chr15:g.72640037T>C (hg19) ; chr15:g.72347696T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347696T>C , CM000677.2:g.72347696T>C	GRCh38
NC_000015.9:g.72640037T>C , CM000677.1:g.72640037T>C	GRCh37
NC_000015.8:g.70427091T>C	NCBI36
NG_009017.1:g.33484A>G
NG_009017.2:g.33484A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.1073+352A>G	ENSP00000457521.2:n.1073+352A>G
ENST00000682061.1:c.*798A>G	ENSP00000508316.1:n.*798A>G
ENST00000682177.1:c.1179A>G	ENSP00000507409.1:n.1179A>G
ENST00000682461.1:c.1242A>G	ENSP00000507308.1:n.1242A>G
ENST00000682653.1:n.1456A>G
ENST00000682657.1:c.*483+352A>G	ENSP00000507753.1:n.*483+352A>G
ENST00000682721.1:c.*939A>G	ENSP00000507535.1:n.*939A>G
ENST00000682843.1:c.*971+352A>G	ENSP00000508173.1:n.*971+352A>G
ENST00000683003.1:c.*483+352A>G	ENSP00000507576.1:n.*483+352A>G
ENST00000683133.1:c.1320A>G	ENSP00000508108.1:n.1320A>G
ENST00000683228.1:n.1167A>G
ENST00000683243.1:c.*483+352A>G	ENSP00000507042.1:n.*483+352A>G
ENST00000683463.1:c.1073+352A>G	ENSP00000507986.1:n.1073+352A>G
ENST00000683548.1:n.1104+352A>G
ENST00000683579.1:c.*1034A>G	ENSP00000506867.1:n.*1034A>G
ENST00000683587.1:n.1167A>G
ENST00000683681.1:c.1136A>G	ENSP00000508110.1:p.Asn379Ser
ENST00000683735.1:c.*1034A>G	ENSP00000508336.1:n.*1034A>G
ENST00000683742.1:n.967A>G
ENST00000683853.1:c.1073+352A>G	ENSP00000506834.1:n.1073+352A>G
ENST00000683860.1:c.1136A>G	ENSP00000507179.1:p.Asn379Ser
ENST00000683884.1:c.1136A>G	ENSP00000507004.1:p.Asn379Ser
ENST00000684041.1:c.1136A>G	ENSP00000508382.1:p.Asn379Ser
ENST00000684125.1:c.1073+352A>G	ENSP00000507320.1:n.1073+352A>G
ENST00000684203.1:n.2911+352A>G
ENST00000684231.1:c.*546A>G	ENSP00000507748.1:n.*546A>G
ENST00000684263.1:c.*76A>G	ENSP00000508369.1:n.*76A>G
ENST00000684305.1:c.1584A>G	ENSP00000506819.1:n.1584A>G
ENST00000684415.1:c.*13+335A>G	ENSP00000507227.1:n.*13+335A>G
ENST00000684520.1:c.1136A>G	ENSP00000506826.1:p.Asn379Ser
ENST00000684602.1:c.*802A>G	ENSP00000507996.1:n.*802A>G
ENST00000684667.1:c.1467A>G	ENSP00000507003.1:n.1467A>G
ENST00000268097.10:c.1136A>G MANE Select	ENSP00000268097.6:p.Asn379Ser
ENST00000268097.9:c.1136A>G	ENSP00000268097.5:p.Asn379Ser
ENST00000379915.4:c.413-1371A>G	ENSP00000478716.1:n.413-1371A>G
ENST00000563762.5:c.825+352A>G	ENSP00000456346.1:n.825+352A>G
ENST00000566304.5:c.1169A>G	ENSP00000455114.1:p.Asn390Ser
ENST00000566672.5:c.*546A>G	ENSP00000457037.1:n.*546A>G
ENST00000567027.5:c.945+352A>G
ENST00000567159.5:c.1136A>G	ENSP00000456489.1:p.Asn379Ser
ENST00000567411.5:c.*657A>G	ENSP00000455545.1:n.*657A>G
ENST00000568777.5:n.6540A>G
ENST00000569410.5:c.1073+352A>G	ENSP00000457125.1:n.1073+352A>G
NM_000520.4:c.1136A>G	NP_000511.2:p.Asn379Ser
NM_000520.5:c.1136A>G	NP_000511.2:p.Asn379Ser
NM_001318825.1:c.1169A>G	NP_001305754.1:p.Asn390Ser
NR_134869.1:n.1574+352A>G
NM_000520.6:c.1136A>G MANE Select	NP_000511.2:p.Asn379Ser
NM_001318825.2:c.1169A>G	NP_001305754.1:p.Asn390Ser
NR_134869.2:n.1115+352A>G
NR_134869.3:n.1115+352A>G