Canonical Allele Identifier: CA2186745425
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72350532A= , CM000677.2:g.72350532A= GRCh38
NC_000015.9:g.72642873A= , CM000677.1:g.72642873A= GRCh37
NC_000015.8:g.70429927A= NCBI36
NG_009017.1:g.30648T=
NG_009017.2:g.30648T=

Transcript Alleles

HGVS Amino-acid change
ENST00000563908.2:n.3137T=
ENST00000567027.6:c.791T= ENSP00000457521.2:p.Leu264=
ENST00000682061.1:c.*453T= ENSP00000508316.1:n.*453T=
ENST00000682177.1:c.834T= ENSP00000507409.1:n.834T=
ENST00000682461.1:c.897T= ENSP00000507308.1:n.897T=
ENST00000682653.1:n.822T=
ENST00000682657.1:c.*201T= ENSP00000507753.1:n.*201T=
ENST00000682721.1:c.*594T= ENSP00000507535.1:n.*594T=
ENST00000682843.1:c.*689T= ENSP00000508173.1:n.*689T=
ENST00000683003.1:c.*201T= ENSP00000507576.1:n.*201T=
ENST00000683133.1:c.975T= ENSP00000508108.1:n.975T=
ENST00000683228.1:n.822T=
ENST00000683243.1:c.*201T= ENSP00000507042.1:n.*201T=
ENST00000683463.1:c.791T= ENSP00000507986.1:p.Leu264=
ENST00000683548.1:n.822T=
ENST00000683579.1:c.*689T= ENSP00000506867.1:n.*689T=
ENST00000683587.1:n.822T=
ENST00000683681.1:c.791T= ENSP00000508110.1:p.Leu264=
ENST00000683735.1:c.*689T= ENSP00000508336.1:n.*689T=
ENST00000683742.1:n.622T=
ENST00000683853.1:c.791T= ENSP00000506834.1:p.Leu264=
ENST00000683860.1:c.791T= ENSP00000507179.1:p.Leu264=
ENST00000683884.1:c.791T= ENSP00000507004.1:p.Leu264=
ENST00000684041.1:c.791T= ENSP00000508382.1:p.Leu264=
ENST00000684125.1:c.791T= ENSP00000507320.1:p.Leu264=
ENST00000684203.1:n.2629T=
ENST00000684231.1:c.*201T= ENSP00000507748.1:n.*201T=
ENST00000684263.1:c.791T= ENSP00000508369.1:p.Leu264=
ENST00000684305.1:c.1239T= ENSP00000506819.1:n.1239T=
ENST00000684415.1:c.791T= ENSP00000507227.1:p.Leu264=
ENST00000684520.1:c.791T= ENSP00000506826.1:p.Leu264=
ENST00000684602.1:c.*457T= ENSP00000507996.1:n.*457T=
ENST00000684667.1:c.1122T= ENSP00000507003.1:n.1122T=
ENST00000268097.10:c.791T= MANE Select ENSP00000268097.6:p.Leu264=
ENST00000268097.9:c.791T= ENSP00000268097.5:p.Leu264=
ENST00000379915.4:c.413-4207T= ENSP00000478716.1:n.413-4207T=
ENST00000563762.5:c.724T= ENSP00000456346.1:n.724T=
ENST00000566304.5:c.824T= ENSP00000455114.1:p.Leu275=
ENST00000566672.5:c.*201T= ENSP00000457037.1:n.*201T=
ENST00000567027.5:c.663T=
ENST00000567159.5:c.791T= ENSP00000456489.1:p.Leu264=
ENST00000567411.5:c.*312T= ENSP00000455545.1:n.*312T=
ENST00000568777.5:n.6195T=
ENST00000569410.5:c.791T= ENSP00000457125.1:p.Leu264=
NM_000520.4:c.791T= NP_000511.2:p.Leu264=
NM_000520.5:c.791T= NP_000511.2:p.Leu264=
NM_001318825.1:c.824T= NP_001305754.1:p.Leu275=
NR_134869.1:n.1292T=
NM_000520.6:c.791T= MANE Select NP_000511.2:p.Leu264=
NM_001318825.2:c.824T= NP_001305754.1:p.Leu275=
NR_134869.2:n.833T=
NR_134869.3:n.833T=