Canonical Allele Identifier: CA393059175

Gene: HEXA

Linked Data

• dbSNP Id: rs863225434
• MyVariant Identifiers: chr15:g.72638612T>C (hg19) ; chr15:g.72346271T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346271T>C , CM000677.2:g.72346271T>C	GRCh38
NC_000015.9:g.72638612T>C , CM000677.1:g.72638612T>C	GRCh37
NC_000015.8:g.70425666T>C	NCBI36
NG_009017.1:g.34909A>G
NG_009017.2:g.34909A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*45A>G	ENSP00000457521.2:n.*45A>G
ENST00000682061.1:c.*1047A>G	ENSP00000508316.1:n.*1047A>G
ENST00000682064.1:n.928A>G
ENST00000682177.1:c.1428A>G	ENSP00000507409.1:n.1428A>G
ENST00000682235.1:n.724A>G
ENST00000682461.1:c.1491A>G	ENSP00000507308.1:n.1491A>G
ENST00000682653.1:n.1705A>G
ENST00000682657.1:c.*538A>G	ENSP00000507753.1:n.*538A>G
ENST00000682721.1:c.*1188A>G	ENSP00000507535.1:n.*1188A>G
ENST00000682843.1:c.*1026A>G	ENSP00000508173.1:n.*1026A>G
ENST00000683003.1:c.*538A>G	ENSP00000507576.1:n.*538A>G
ENST00000683133.1:c.1569A>G	ENSP00000508108.1:n.1569A>G
ENST00000683243.1:c.*538A>G	ENSP00000507042.1:n.*538A>G
ENST00000683463.1:c.*190A>G	ENSP00000507986.1:n.*190A>G
ENST00000683548.1:n.1159A>G
ENST00000683579.1:c.*1283A>G	ENSP00000506867.1:n.*1283A>G
ENST00000683587.1:n.1232A>G
ENST00000683681.1:c.1385A>G	ENSP00000508110.1:p.Glu462Gly
ENST00000683735.1:c.*1099A>G	ENSP00000508336.1:n.*1099A>G
ENST00000683853.1:c.*190A>G	ENSP00000506834.1:n.*190A>G
ENST00000683860.1:c.1385A>G	ENSP00000507179.1:p.Glu462Gly
ENST00000683884.1:c.*28A>G	ENSP00000507004.1:n.*28A>G
ENST00000684041.1:c.1385A>G	ENSP00000508382.1:p.Glu462Gly
ENST00000684125.1:c.*45A>G	ENSP00000507320.1:n.*45A>G
ENST00000684203.1:n.3150A>G
ENST00000684231.1:c.*795A>G	ENSP00000507748.1:n.*795A>G
ENST00000684263.1:c.*325A>G	ENSP00000508369.1:n.*325A>G
ENST00000684305.1:c.1833A>G	ENSP00000506819.1:n.1833A>G
ENST00000684415.1:c.*252A>G	ENSP00000507227.1:n.*252A>G
ENST00000684520.1:c.1385A>G	ENSP00000506826.1:p.Glu462Gly
ENST00000684602.1:c.*1051A>G	ENSP00000507996.1:n.*1051A>G
ENST00000684667.1:c.1716A>G	ENSP00000507003.1:n.1716A>G
ENST00000268097.10:c.1385A>G MANE Select	ENSP00000268097.6:p.Glu462Gly
ENST00000268097.9:c.1385A>G	ENSP00000268097.5:p.Glu462Gly
ENST00000379915.4:c.467A>G	ENSP00000478716.1:p.Glu156Gly
ENST00000563762.5:c.880A>G	ENSP00000456346.1:n.880A>G
ENST00000566304.5:c.1418A>G	ENSP00000455114.1:p.Glu473Gly
ENST00000566672.5:c.*795A>G	ENSP00000457037.1:n.*795A>G
ENST00000567027.5:c.1000A>G
ENST00000567159.5:c.1385A>G	ENSP00000456489.1:p.Glu462Gly
ENST00000567411.5:c.*906A>G	ENSP00000455545.1:n.*906A>G
ENST00000568777.5:n.6605A>G
ENST00000569410.5:c.*190A>G	ENSP00000457125.1:n.*190A>G
NM_000520.4:c.1385A>G	NP_000511.2:p.Glu462Gly
NM_000520.5:c.1385A>G	NP_000511.2:p.Glu462Gly
NM_001318825.1:c.1418A>G	NP_001305754.1:p.Glu473Gly
NR_134869.1:n.1629A>G
NM_000520.6:c.1385A>G MANE Select	NP_000511.2:p.Glu462Gly
NM_001318825.2:c.1418A>G	NP_001305754.1:p.Glu473Gly
NR_134869.2:n.1170A>G
NR_134869.3:n.1170A>G