Canonical Allele Identifier: CA272609180

Gene: HEXA

Linked Data

• ClinVar Variation Id: 918075
• ClinVar RCV Id: RCV001175333
• dbSNP Id: rs121907952
• MyVariant Identifiers: chr15:g.72637869C>A (hg19) ; chr15:g.72345528C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345528C>A , CM000677.2:g.72345528C>A	GRCh38
NC_000015.9:g.72637869C>A , CM000677.1:g.72637869C>A	GRCh37
NC_000015.8:g.70424923C>A	NCBI36
NG_009017.1:g.35652G>T
NG_009017.2:g.35652G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*104G>T	ENSP00000457521.2:n.*104G>T
ENST00000682061.1:c.*1790G>T	ENSP00000508316.1:n.*1790G>T
ENST00000682064.1:n.1671G>T
ENST00000682177.1:c.1487G>T	ENSP00000507409.1:n.1487G>T
ENST00000682235.1:n.1467G>T
ENST00000682461.1:c.1550G>T	ENSP00000507308.1:n.1550G>T
ENST00000682653.1:n.2448G>T
ENST00000682657.1:c.*1281G>T	ENSP00000507753.1:n.*1281G>T
ENST00000682721.1:c.*1247G>T	ENSP00000507535.1:n.*1247G>T
ENST00000682843.1:c.*1085G>T	ENSP00000508173.1:n.*1085G>T
ENST00000683003.1:c.*1281G>T	ENSP00000507576.1:n.*1281G>T
ENST00000683133.1:c.1628G>T	ENSP00000508108.1:n.1628G>T
ENST00000683243.1:c.*597G>T	ENSP00000507042.1:n.*597G>T
ENST00000683463.1:c.*933G>T	ENSP00000507986.1:n.*933G>T
ENST00000683548.1:n.1902G>T
ENST00000683579.1:c.*1342G>T	ENSP00000506867.1:n.*1342G>T
ENST00000683587.1:n.1975G>T
ENST00000683681.1:c.*122G>T	ENSP00000508110.1:n.*122G>T
ENST00000683735.1:c.*1842G>T	ENSP00000508336.1:n.*1842G>T
ENST00000683853.1:c.*249G>T	ENSP00000506834.1:n.*249G>T
ENST00000683860.1:c.*564G>T	ENSP00000507179.1:n.*564G>T
ENST00000683884.1:c.*771G>T	ENSP00000507004.1:n.*771G>T
ENST00000684041.1:c.*577G>T	ENSP00000508382.1:n.*577G>T
ENST00000684125.1:c.*104G>T	ENSP00000507320.1:n.*104G>T
ENST00000684203.1:n.3893G>T
ENST00000684231.1:c.*854G>T	ENSP00000507748.1:n.*854G>T
ENST00000684263.1:c.*1068G>T	ENSP00000508369.1:n.*1068G>T
ENST00000684305.1:c.1892G>T	ENSP00000506819.1:n.1892G>T
ENST00000684415.1:c.*995G>T	ENSP00000507227.1:n.*995G>T
ENST00000684520.1:c.*703G>T	ENSP00000506826.1:n.*703G>T
ENST00000684602.1:c.*1110G>T	ENSP00000507996.1:n.*1110G>T
ENST00000684667.1:c.1775G>T	ENSP00000507003.1:n.1775G>T
ENST00000268097.10:c.1444G>T MANE Select	ENSP00000268097.6:p.Glu482Ter
ENST00000268097.9:c.1444G>T	ENSP00000268097.5:p.Glu482Ter
ENST00000379915.4:c.526G>T	ENSP00000478716.1:p.Glu176Ter
ENST00000564677.5:n.236G>T
ENST00000565873.1:n.355G>T
ENST00000566304.5:c.1477G>T	ENSP00000455114.1:p.Glu493Ter
ENST00000567027.5:c.1059G>T
ENST00000567159.5:c.1444G>T	ENSP00000456489.1:p.Glu482Ter
ENST00000567411.5:c.*965G>T	ENSP00000455545.1:n.*965G>T
ENST00000568777.5:n.6664G>T
ENST00000569116.1:n.151G>T
NM_000520.4:c.1444G>T	NP_000511.2:p.Glu482Ter
NM_000520.5:c.1444G>T	NP_000511.2:p.Glu482Ter
NM_001318825.1:c.1477G>T	NP_001305754.1:p.Glu493Ter
NR_134869.1:n.1688G>T
NM_000520.6:c.1444G>T MANE Select	NP_000511.2:p.Glu482Ter
NM_001318825.2:c.1477G>T	NP_001305754.1:p.Glu493Ter
NR_134869.2:n.1229G>T
NR_134869.3:n.1229G>T