Canonical Allele Identifier: CA252909
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3900
dbSNP Id: rs121907957

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72353129C>T , CM000677.2:g.72353129C>T GRCh38
NC_000015.9:g.72645470C>T , CM000677.1:g.72645470C>T GRCh37
NC_000015.8:g.70432524C>T NCBI36
NG_009017.1:g.28051G>A
NG_009017.2:g.28051G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000563908.2:n.2855G>A
ENST00000567027.6:c.509G>A ENSP00000457521.2:p.Arg170Gln
ENST00000568260.2:c.529G>A ENSP00000458128.2:n.529G>A
ENST00000682061.1:c.*171G>A ENSP00000508316.1:n.*171G>A
ENST00000682177.1:c.509G>A ENSP00000507409.1:p.Arg170Gln
ENST00000682461.1:c.677-1895G>A ENSP00000507308.1:n.677-1895G>A
ENST00000682653.1:n.540G>A
ENST00000682657.1:c.254-1895G>A ENSP00000507753.1:n.254-1895G>A
ENST00000682721.1:c.*312G>A ENSP00000507535.1:n.*312G>A
ENST00000682843.1:c.*407G>A ENSP00000508173.1:n.*407G>A
ENST00000683003.1:c.413-1895G>A ENSP00000507576.1:n.413-1895G>A
ENST00000683133.1:c.693G>A ENSP00000508108.1:n.693G>A
ENST00000683228.1:n.540G>A
ENST00000683243.1:c.413-1895G>A ENSP00000507042.1:n.413-1895G>A
ENST00000683463.1:c.509G>A ENSP00000507986.1:p.Arg170Gln
ENST00000683548.1:n.540G>A
ENST00000683579.1:c.*407G>A ENSP00000506867.1:n.*407G>A
ENST00000683587.1:n.540G>A
ENST00000683681.1:c.509G>A ENSP00000508110.1:p.Arg170Gln
ENST00000683735.1:c.*407G>A ENSP00000508336.1:n.*407G>A
ENST00000683853.1:c.509G>A ENSP00000506834.1:p.Arg170Gln
ENST00000683860.1:c.509G>A ENSP00000507179.1:p.Arg170Gln
ENST00000683884.1:c.509G>A ENSP00000507004.1:p.Arg170Gln
ENST00000684041.1:c.509G>A ENSP00000508382.1:p.Arg170Gln
ENST00000684125.1:c.509G>A ENSP00000507320.1:p.Arg170Gln
ENST00000684203.1:n.2347G>A
ENST00000684231.1:c.413-1895G>A ENSP00000507748.1:n.413-1895G>A
ENST00000684263.1:c.509G>A ENSP00000508369.1:p.Arg170Gln
ENST00000684305.1:c.957G>A ENSP00000506819.1:n.957G>A
ENST00000684415.1:c.509G>A ENSP00000507227.1:p.Arg170Gln
ENST00000684520.1:c.509G>A ENSP00000506826.1:p.Arg170Gln
ENST00000684602.1:c.*237-1895G>A ENSP00000507996.1:n.*237-1895G>A
ENST00000684667.1:c.840G>A ENSP00000507003.1:n.840G>A
ENST00000268097.10:c.509G>A MANE Select ENSP00000268097.6:p.Arg170Gln
ENST00000268097.9:c.509G>A ENSP00000268097.5:p.Arg170Gln
ENST00000379915.4:c.412+2430G>A ENSP00000478716.1:n.412+2430G>A
ENST00000563762.5:c.504-1895G>A ENSP00000456346.1:n.504-1895G>A
ENST00000566304.5:c.542G>A ENSP00000455114.1:p.Arg181Gln
ENST00000566672.5:c.413-1895G>A ENSP00000457037.1:n.413-1895G>A
ENST00000567027.5:c.381G>A
ENST00000567159.5:c.509G>A ENSP00000456489.1:p.Arg170Gln
ENST00000567411.5:c.*30G>A ENSP00000455545.1:n.*30G>A
ENST00000568260.1:c.510G>A
ENST00000568777.5:n.5913G>A
ENST00000569410.5:c.509G>A ENSP00000457125.1:p.Arg170Gln
ENST00000569509.5:n.418-1895G>A
NM_000520.4:c.509G>A NP_000511.2:p.Arg170Gln
NM_000520.5:c.509G>A NP_000511.2:p.Arg170Gln
NM_001318825.1:c.542G>A NP_001305754.1:p.Arg181Gln
NR_134869.1:n.1010G>A
NM_000520.6:c.509G>A MANE Select NP_000511.2:p.Arg170Gln
NM_001318825.2:c.542G>A NP_001305754.1:p.Arg181Gln
NR_134869.2:n.551G>A
NR_134869.3:n.551G>A