Canonical Allele Identifier: CA2842250951
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72350515dup , CM000677.2:g.72350515dup GRCh38
NC_000015.9:g.72642856dup , CM000677.1:g.72642856dup GRCh37
NC_000015.8:g.70429910dup NCBI36
NG_009017.1:g.30666dup
NG_009017.2:g.30666dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000563908.2:n.3151+4dup
ENST00000567027.6:c.805+4dup ENSP00000457521.2:n.805+4dup
ENST00000682061.1:c.*467+4dup ENSP00000508316.1:n.*467+4dup
ENST00000682177.1:c.848+4dup ENSP00000507409.1:n.848+4dup
ENST00000682461.1:c.911+4dup ENSP00000507308.1:n.911+4dup
ENST00000682653.1:n.836+4dup
ENST00000682657.1:c.*215+4dup ENSP00000507753.1:n.*215+4dup
ENST00000682721.1:c.*608+4dup ENSP00000507535.1:n.*608+4dup
ENST00000682843.1:c.*703+4dup ENSP00000508173.1:n.*703+4dup
ENST00000683003.1:c.*215+4dup ENSP00000507576.1:n.*215+4dup
ENST00000683133.1:c.989+4dup ENSP00000508108.1:n.989+4dup
ENST00000683228.1:n.836+4dup
ENST00000683243.1:c.*215+4dup ENSP00000507042.1:n.*215+4dup
ENST00000683463.1:c.805+4dup ENSP00000507986.1:n.805+4dup
ENST00000683548.1:n.836+4dup
ENST00000683579.1:c.*703+4dup ENSP00000506867.1:n.*703+4dup
ENST00000683587.1:n.836+4dup
ENST00000683681.1:c.805+4dup ENSP00000508110.1:n.805+4dup
ENST00000683735.1:c.*703+4dup ENSP00000508336.1:n.*703+4dup
ENST00000683742.1:n.636+4dup
ENST00000683853.1:c.805+4dup ENSP00000506834.1:n.805+4dup
ENST00000683860.1:c.805+4dup ENSP00000507179.1:n.805+4dup
ENST00000683884.1:c.805+4dup ENSP00000507004.1:n.805+4dup
ENST00000684041.1:c.805+4dup ENSP00000508382.1:n.805+4dup
ENST00000684125.1:c.805+4dup ENSP00000507320.1:n.805+4dup
ENST00000684203.1:n.2643+4dup
ENST00000684231.1:c.*215+4dup ENSP00000507748.1:n.*215+4dup
ENST00000684263.1:c.805+4dup ENSP00000508369.1:n.805+4dup
ENST00000684305.1:c.1253+4dup ENSP00000506819.1:n.1253+4dup
ENST00000684415.1:c.805+4dup ENSP00000507227.1:n.805+4dup
ENST00000684520.1:c.805+4dup ENSP00000506826.1:n.805+4dup
ENST00000684602.1:c.*471+4dup ENSP00000507996.1:n.*471+4dup
ENST00000684667.1:c.1136+4dup ENSP00000507003.1:n.1136+4dup
ENST00000268097.10:c.805+4dup MANE Select ENSP00000268097.6:n.805+4dup
ENST00000268097.9:c.805+4dup ENSP00000268097.5:n.805+4dup
ENST00000379915.4:c.413-4189dup ENSP00000478716.1:n.413-4189dup
ENST00000563762.5:c.738+4dup ENSP00000456346.1:n.738+4dup
ENST00000566304.5:c.838+4dup ENSP00000455114.1:n.838+4dup
ENST00000566672.5:c.*215+4dup ENSP00000457037.1:n.*215+4dup
ENST00000567027.5:c.677+4dup
ENST00000567159.5:c.805+4dup ENSP00000456489.1:n.805+4dup
ENST00000567411.5:c.*326+4dup ENSP00000455545.1:n.*326+4dup
ENST00000568777.5:n.6209+4dup
ENST00000569410.5:c.805+4dup ENSP00000457125.1:n.805+4dup
NM_000520.4:c.805+4dup NP_000511.2:n.805+4dup
NM_000520.5:c.805+4dup NP_000511.2:n.805+4dup
NM_001318825.1:c.838+4dup NP_001305754.1:n.838+4dup
NR_134869.1:n.1306+4dup
NM_000520.6:c.805+4dup MANE Select NP_000511.2:n.805+4dup
NM_001318825.2:c.838+4dup NP_001305754.1:n.838+4dup
NR_134869.2:n.847+4dup
NR_134869.3:n.847+4dup