Canonical Allele Identifier: CA393059374

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638657T>A (hg19) ; chr15:g.72346316T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346316T>A , CM000677.2:g.72346316T>A	GRCh38
NC_000015.9:g.72638657T>A , CM000677.1:g.72638657T>A	GRCh37
NC_000015.8:g.70425711T>A	NCBI36
NG_009017.1:g.34864A>T
NG_009017.2:g.34864A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1083A>T	ENSP00000457521.2:p.Ter361Cys
ENST00000682061.1:c.*1002A>T	ENSP00000508316.1:n.*1002A>T
ENST00000682064.1:n.883A>T
ENST00000682177.1:c.1383A>T	ENSP00000507409.1:n.1383A>T
ENST00000682235.1:n.679A>T
ENST00000682461.1:c.1446A>T	ENSP00000507308.1:n.1446A>T
ENST00000682653.1:n.1660A>T
ENST00000682657.1:c.*493A>T	ENSP00000507753.1:n.*493A>T
ENST00000682721.1:c.*1143A>T	ENSP00000507535.1:n.*1143A>T
ENST00000682843.1:c.*981A>T	ENSP00000508173.1:n.*981A>T
ENST00000683003.1:c.*493A>T	ENSP00000507576.1:n.*493A>T
ENST00000683133.1:c.1524A>T	ENSP00000508108.1:n.1524A>T
ENST00000683243.1:c.*493A>T	ENSP00000507042.1:n.*493A>T
ENST00000683463.1:c.*145A>T	ENSP00000507986.1:n.*145A>T
ENST00000683548.1:n.1114A>T
ENST00000683579.1:c.*1238A>T	ENSP00000506867.1:n.*1238A>T
ENST00000683587.1:n.1187A>T
ENST00000683681.1:c.1340A>T	ENSP00000508110.1:p.Glu447Val
ENST00000683735.1:c.*1054A>T	ENSP00000508336.1:n.*1054A>T
ENST00000683853.1:c.*145A>T	ENSP00000506834.1:n.*145A>T
ENST00000683860.1:c.1340A>T	ENSP00000507179.1:p.Glu447Val
ENST00000683884.1:c.1156A>T	ENSP00000507004.1:p.Ser386Cys
ENST00000684041.1:c.1340A>T	ENSP00000508382.1:p.Glu447Val
ENST00000684125.1:c.1083A>T	ENSP00000507320.1:p.Ter361Cys
ENST00000684203.1:n.3105A>T
ENST00000684231.1:c.*750A>T	ENSP00000507748.1:n.*750A>T
ENST00000684263.1:c.*280A>T	ENSP00000508369.1:n.*280A>T
ENST00000684305.1:c.1788A>T	ENSP00000506819.1:n.1788A>T
ENST00000684415.1:c.*207A>T	ENSP00000507227.1:n.*207A>T
ENST00000684520.1:c.1340A>T	ENSP00000506826.1:p.Glu447Val
ENST00000684602.1:c.*1006A>T	ENSP00000507996.1:n.*1006A>T
ENST00000684667.1:c.1671A>T	ENSP00000507003.1:n.1671A>T
ENST00000268097.10:c.1340A>T MANE Select	ENSP00000268097.6:p.Glu447Val
ENST00000268097.9:c.1340A>T	ENSP00000268097.5:p.Glu447Val
ENST00000379915.4:c.422A>T	ENSP00000478716.1:p.Glu141Val
ENST00000563762.5:c.835A>T	ENSP00000456346.1:n.835A>T
ENST00000566304.5:c.1373A>T	ENSP00000455114.1:p.Glu458Val
ENST00000566672.5:c.*750A>T	ENSP00000457037.1:n.*750A>T
ENST00000567027.5:c.955A>T
ENST00000567159.5:c.1340A>T	ENSP00000456489.1:p.Glu447Val
ENST00000567411.5:c.*861A>T	ENSP00000455545.1:n.*861A>T
ENST00000568777.5:n.6560A>T
ENST00000569410.5:c.*145A>T	ENSP00000457125.1:n.*145A>T
NM_000520.4:c.1340A>T	NP_000511.2:p.Glu447Val
NM_000520.5:c.1340A>T	NP_000511.2:p.Glu447Val
NM_001318825.1:c.1373A>T	NP_001305754.1:p.Glu458Val
NR_134869.1:n.1584A>T
NM_000520.6:c.1340A>T MANE Select	NP_000511.2:p.Glu447Val
NM_001318825.2:c.1373A>T	NP_001305754.1:p.Glu458Val
NR_134869.2:n.1125A>T
NR_134869.3:n.1125A>T