Canonical Allele Identifier: CA2186744877
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72349169T= , CM000677.2:g.72349169T= GRCh38
NC_000015.9:g.72641510T= , CM000677.1:g.72641510T= GRCh37
NC_000015.8:g.70428564T= NCBI36
NG_009017.1:g.32011A=
NG_009017.2:g.32011A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000563908.2:n.3242A=
ENST00000567027.6:c.896A= ENSP00000457521.2:p.Glu299=
ENST00000682061.1:c.*558A= ENSP00000508316.1:n.*558A=
ENST00000682177.1:c.939A= ENSP00000507409.1:n.939A=
ENST00000682461.1:c.1002A= ENSP00000507308.1:n.1002A=
ENST00000682653.1:n.927A=
ENST00000682657.1:c.*306A= ENSP00000507753.1:n.*306A=
ENST00000682721.1:c.*699A= ENSP00000507535.1:n.*699A=
ENST00000682843.1:c.*794A= ENSP00000508173.1:n.*794A=
ENST00000683003.1:c.*306A= ENSP00000507576.1:n.*306A=
ENST00000683133.1:c.1080A= ENSP00000508108.1:n.1080A=
ENST00000683228.1:n.927A=
ENST00000683243.1:c.*306A= ENSP00000507042.1:n.*306A=
ENST00000683463.1:c.896A= ENSP00000507986.1:p.Glu299=
ENST00000683548.1:n.927A=
ENST00000683579.1:c.*794A= ENSP00000506867.1:n.*794A=
ENST00000683587.1:n.927A=
ENST00000683681.1:c.896A= ENSP00000508110.1:p.Glu299=
ENST00000683735.1:c.*794A= ENSP00000508336.1:n.*794A=
ENST00000683742.1:n.727A=
ENST00000683853.1:c.896A= ENSP00000506834.1:p.Glu299=
ENST00000683860.1:c.896A= ENSP00000507179.1:p.Glu299=
ENST00000683884.1:c.896A= ENSP00000507004.1:p.Glu299=
ENST00000684041.1:c.896A= ENSP00000508382.1:p.Glu299=
ENST00000684125.1:c.896A= ENSP00000507320.1:p.Glu299=
ENST00000684203.1:n.2734A=
ENST00000684231.1:c.*306A= ENSP00000507748.1:n.*306A=
ENST00000684263.1:c.896A= ENSP00000508369.1:p.Glu299=
ENST00000684305.1:c.1344A= ENSP00000506819.1:n.1344A=
ENST00000684415.1:c.896A= ENSP00000507227.1:p.Glu299=
ENST00000684520.1:c.896A= ENSP00000506826.1:p.Glu299=
ENST00000684602.1:c.*562A= ENSP00000507996.1:n.*562A=
ENST00000684667.1:c.1227A= ENSP00000507003.1:n.1227A=
ENST00000268097.10:c.896A= MANE Select ENSP00000268097.6:p.Glu299=
ENST00000268097.9:c.896A= ENSP00000268097.5:p.Glu299=
ENST00000379915.4:c.413-2844A= ENSP00000478716.1:n.413-2844A=
ENST00000563762.5:c.739-1035A= ENSP00000456346.1:n.739-1035A=
ENST00000566304.5:c.929A= ENSP00000455114.1:p.Glu310=
ENST00000566672.5:c.*306A= ENSP00000457037.1:n.*306A=
ENST00000567027.5:c.768A=
ENST00000567159.5:c.896A= ENSP00000456489.1:p.Glu299=
ENST00000567411.5:c.*417A= ENSP00000455545.1:n.*417A=
ENST00000568777.5:n.6300A=
ENST00000569410.5:c.896A= ENSP00000457125.1:p.Glu299=
NM_000520.4:c.896A= NP_000511.2:p.Glu299=
NM_000520.5:c.896A= NP_000511.2:p.Glu299=
NM_001318825.1:c.929A= NP_001305754.1:p.Glu310=
NR_134869.1:n.1397A=
NM_000520.6:c.896A= MANE Select NP_000511.2:p.Glu299=
NM_001318825.2:c.929A= NP_001305754.1:p.Glu310=
NR_134869.2:n.938A=
NR_134869.3:n.938A=