Canonical Allele Identifier: CA393057436
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72344111A>T , CM000677.2:g.72344111A>T GRCh38
NC_000015.9:g.72636452A>T , CM000677.1:g.72636452A>T GRCh37
NC_000015.8:g.70423506A>T NCBI36
NG_009017.1:g.37069T>A
NG_009017.2:g.37069T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682064.1:n.1783T>A
ENST00000682235.1:n.1579T>A
ENST00000682461.1:c.1662T>A ENSP00000507308.1:n.1662T>A
ENST00000682653.1:n.3865T>A
ENST00000682721.1:c.*1359T>A ENSP00000507535.1:n.*1359T>A
ENST00000682843.1:c.*1197T>A ENSP00000508173.1:n.*1197T>A
ENST00000683133.1:c.1740T>A ENSP00000508108.1:n.1740T>A
ENST00000683243.1:c.*709T>A ENSP00000507042.1:n.*709T>A
ENST00000683463.1:c.*1045T>A ENSP00000507986.1:n.*1045T>A
ENST00000683548.1:n.2014T>A
ENST00000683579.1:c.*1454T>A ENSP00000506867.1:n.*1454T>A
ENST00000683587.1:n.2087T>A
ENST00000683681.1:c.*234T>A ENSP00000508110.1:n.*234T>A
ENST00000683735.1:c.*1954T>A ENSP00000508336.1:n.*1954T>A
ENST00000683853.1:c.*1666T>A ENSP00000506834.1:n.*1666T>A
ENST00000683860.1:c.*676T>A ENSP00000507179.1:n.*676T>A
ENST00000684125.1:c.*216T>A ENSP00000507320.1:n.*216T>A
ENST00000684203.1:n.4005T>A
ENST00000684231.1:c.*966T>A ENSP00000507748.1:n.*966T>A
ENST00000684263.1:c.*1180T>A ENSP00000508369.1:n.*1180T>A
ENST00000684305.1:c.2004T>A ENSP00000506819.1:n.2004T>A
ENST00000684602.1:c.*1222T>A ENSP00000507996.1:n.*1222T>A
ENST00000684667.1:c.1887T>A ENSP00000507003.1:n.1887T>A
ENST00000268097.10:c.1556T>A MANE Select ENSP00000268097.6:p.Val519Glu
ENST00000268097.9:c.1556T>A ENSP00000268097.5:p.Val519Glu
ENST00000379915.4:c.608+1335T>A ENSP00000478716.1:n.608+1335T>A
ENST00000564677.5:n.348T>A
ENST00000565873.1:n.467T>A
ENST00000566304.5:c.1589T>A ENSP00000455114.1:p.Val530Glu
ENST00000567411.5:c.*1077T>A ENSP00000455545.1:n.*1077T>A
NM_000520.4:c.1556T>A NP_000511.2:p.Val519Glu
NM_000520.5:c.1556T>A NP_000511.2:p.Val519Glu
NM_001318825.1:c.1589T>A NP_001305754.1:p.Val530Glu
NM_000520.6:c.1556T>A MANE Select NP_000511.2:p.Val519Glu
NM_001318825.2:c.1589T>A NP_001305754.1:p.Val530Glu