Canonical Allele Identifier: CA7644790

Gene: HEXA

Linked Data

• ClinVar Variation Id: 2168916
• ClinVar RCV Id: RCV003082809
• dbSNP Id: rs776119987
• ExAC: 15:72640038 T / C
• gnomAD v2: 15-72640038-T-C
• gnomAD v4: 15-72347697-T-C
• MyVariant Identifiers: chr15:g.72640038T>C (hg19) ; chr15:g.72347697T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347697T>C , CM000677.2:g.72347697T>C	GRCh38
NC_000015.9:g.72640038T>C , CM000677.1:g.72640038T>C	GRCh37
NC_000015.8:g.70427092T>C	NCBI36
NG_009017.1:g.33483A>G
NG_009017.2:g.33483A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+351A>G	ENSP00000457521.2:n.1073+351A>G
ENST00000682061.1:c.*797A>G	ENSP00000508316.1:n.*797A>G
ENST00000682177.1:c.1178A>G	ENSP00000507409.1:n.1178A>G
ENST00000682461.1:c.1241A>G	ENSP00000507308.1:n.1241A>G
ENST00000682653.1:n.1455A>G
ENST00000682657.1:c.*483+351A>G	ENSP00000507753.1:n.*483+351A>G
ENST00000682721.1:c.*938A>G	ENSP00000507535.1:n.*938A>G
ENST00000682843.1:c.*971+351A>G	ENSP00000508173.1:n.*971+351A>G
ENST00000683003.1:c.*483+351A>G	ENSP00000507576.1:n.*483+351A>G
ENST00000683133.1:c.1319A>G	ENSP00000508108.1:n.1319A>G
ENST00000683228.1:n.1166A>G
ENST00000683243.1:c.*483+351A>G	ENSP00000507042.1:n.*483+351A>G
ENST00000683463.1:c.1073+351A>G	ENSP00000507986.1:n.1073+351A>G
ENST00000683548.1:n.1104+351A>G
ENST00000683579.1:c.*1033A>G	ENSP00000506867.1:n.*1033A>G
ENST00000683587.1:n.1166A>G
ENST00000683681.1:c.1135A>G	ENSP00000508110.1:p.Asn379Asp
ENST00000683735.1:c.*1033A>G	ENSP00000508336.1:n.*1033A>G
ENST00000683742.1:n.966A>G
ENST00000683853.1:c.1073+351A>G	ENSP00000506834.1:n.1073+351A>G
ENST00000683860.1:c.1135A>G	ENSP00000507179.1:p.Asn379Asp
ENST00000683884.1:c.1135A>G	ENSP00000507004.1:p.Asn379Asp
ENST00000684041.1:c.1135A>G	ENSP00000508382.1:p.Asn379Asp
ENST00000684125.1:c.1073+351A>G	ENSP00000507320.1:n.1073+351A>G
ENST00000684203.1:n.2911+351A>G
ENST00000684231.1:c.*545A>G	ENSP00000507748.1:n.*545A>G
ENST00000684263.1:c.*75A>G	ENSP00000508369.1:n.*75A>G
ENST00000684305.1:c.1583A>G	ENSP00000506819.1:n.1583A>G
ENST00000684415.1:c.*13+334A>G	ENSP00000507227.1:n.*13+334A>G
ENST00000684520.1:c.1135A>G	ENSP00000506826.1:p.Asn379Asp
ENST00000684602.1:c.*801A>G	ENSP00000507996.1:n.*801A>G
ENST00000684667.1:c.1466A>G	ENSP00000507003.1:n.1466A>G
ENST00000268097.10:c.1135A>G MANE Select	ENSP00000268097.6:p.Asn379Asp
ENST00000268097.9:c.1135A>G	ENSP00000268097.5:p.Asn379Asp
ENST00000379915.4:c.413-1372A>G	ENSP00000478716.1:n.413-1372A>G
ENST00000563762.5:c.825+351A>G	ENSP00000456346.1:n.825+351A>G
ENST00000566304.5:c.1168A>G	ENSP00000455114.1:p.Asn390Asp
ENST00000566672.5:c.*545A>G	ENSP00000457037.1:n.*545A>G
ENST00000567027.5:c.945+351A>G
ENST00000567159.5:c.1135A>G	ENSP00000456489.1:p.Asn379Asp
ENST00000567411.5:c.*656A>G	ENSP00000455545.1:n.*656A>G
ENST00000568777.5:n.6539A>G
ENST00000569410.5:c.1073+351A>G	ENSP00000457125.1:n.1073+351A>G
NM_000520.4:c.1135A>G	NP_000511.2:p.Asn379Asp
NM_000520.5:c.1135A>G	NP_000511.2:p.Asn379Asp
NM_001318825.1:c.1168A>G	NP_001305754.1:p.Asn390Asp
NR_134869.1:n.1574+351A>G
NM_000520.6:c.1135A>G MANE Select	NP_000511.2:p.Asn379Asp
NM_001318825.2:c.1168A>G	NP_001305754.1:p.Asn390Asp
NR_134869.2:n.1115+351A>G
NR_134869.3:n.1115+351A>G