Canonical Allele Identifier: CA116502

Gene: HEXA

Linked Data

• ClinVar Variation Id: 3902
• ClinVar RCV Id: RCV000004108 ; RCV002226437
• dbSNP Id: rs121907959
• MyVariant Identifiers: chr15:g.72642915C>T (hg19) ; chr15:g.72350574C>T (hg38)
• PubMed: PMID:1301189

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72350574C>T , CM000677.2:g.72350574C>T	GRCh38
NC_000015.9:g.72642915C>T , CM000677.1:g.72642915C>T	GRCh37
NC_000015.8:g.70429969C>T	NCBI36
NG_009017.1:g.30606G>A
NG_009017.2:g.30606G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3095G>A
ENST00000567027.6:c.749G>A	ENSP00000457521.2:p.Gly250Asp
ENST00000682061.1:c.*411G>A	ENSP00000508316.1:n.*411G>A
ENST00000682177.1:c.792G>A	ENSP00000507409.1:n.792G>A
ENST00000682461.1:c.855G>A	ENSP00000507308.1:n.855G>A
ENST00000682653.1:n.780G>A
ENST00000682657.1:c.*159G>A	ENSP00000507753.1:n.*159G>A
ENST00000682721.1:c.*552G>A	ENSP00000507535.1:n.*552G>A
ENST00000682843.1:c.*647G>A	ENSP00000508173.1:n.*647G>A
ENST00000683003.1:c.*159G>A	ENSP00000507576.1:n.*159G>A
ENST00000683133.1:c.933G>A	ENSP00000508108.1:n.933G>A
ENST00000683228.1:n.780G>A
ENST00000683243.1:c.*159G>A	ENSP00000507042.1:n.*159G>A
ENST00000683463.1:c.749G>A	ENSP00000507986.1:p.Gly250Asp
ENST00000683548.1:n.780G>A
ENST00000683579.1:c.*647G>A	ENSP00000506867.1:n.*647G>A
ENST00000683587.1:n.780G>A
ENST00000683681.1:c.749G>A	ENSP00000508110.1:p.Gly250Asp
ENST00000683735.1:c.*647G>A	ENSP00000508336.1:n.*647G>A
ENST00000683742.1:n.580G>A
ENST00000683853.1:c.749G>A	ENSP00000506834.1:p.Gly250Asp
ENST00000683860.1:c.749G>A	ENSP00000507179.1:p.Gly250Asp
ENST00000683884.1:c.749G>A	ENSP00000507004.1:p.Gly250Asp
ENST00000684041.1:c.749G>A	ENSP00000508382.1:p.Gly250Asp
ENST00000684125.1:c.749G>A	ENSP00000507320.1:p.Gly250Asp
ENST00000684203.1:n.2587G>A
ENST00000684231.1:c.*159G>A	ENSP00000507748.1:n.*159G>A
ENST00000684263.1:c.749G>A	ENSP00000508369.1:p.Gly250Asp
ENST00000684305.1:c.1197G>A	ENSP00000506819.1:n.1197G>A
ENST00000684415.1:c.749G>A	ENSP00000507227.1:p.Gly250Asp
ENST00000684520.1:c.749G>A	ENSP00000506826.1:p.Gly250Asp
ENST00000684602.1:c.*415G>A	ENSP00000507996.1:n.*415G>A
ENST00000684667.1:c.1080G>A	ENSP00000507003.1:n.1080G>A
ENST00000268097.10:c.749G>A MANE Select	ENSP00000268097.6:p.Gly250Asp
ENST00000268097.9:c.749G>A	ENSP00000268097.5:p.Gly250Asp
ENST00000379915.4:c.413-4249G>A	ENSP00000478716.1:n.413-4249G>A
ENST00000563762.5:c.682G>A	ENSP00000456346.1:n.682G>A
ENST00000566304.5:c.782G>A	ENSP00000455114.1:p.Gly261Asp
ENST00000566672.5:c.*159G>A	ENSP00000457037.1:n.*159G>A
ENST00000567027.5:c.621G>A
ENST00000567159.5:c.749G>A	ENSP00000456489.1:p.Gly250Asp
ENST00000567411.5:c.*270G>A	ENSP00000455545.1:n.*270G>A
ENST00000568777.5:n.6153G>A
ENST00000569410.5:c.749G>A	ENSP00000457125.1:p.Gly250Asp
NM_000520.4:c.749G>A	NP_000511.2:p.Gly250Asp
NM_000520.5:c.749G>A	NP_000511.2:p.Gly250Asp
NM_001318825.1:c.782G>A	NP_001305754.1:p.Gly261Asp
NR_134869.1:n.1250G>A
NM_000520.6:c.749G>A MANE Select	NP_000511.2:p.Gly250Asp
NM_001318825.2:c.782G>A	NP_001305754.1:p.Gly261Asp
NR_134869.2:n.791G>A
NR_134869.3:n.791G>A