Canonical Allele Identifier: CA2186743284
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345518C= , CM000677.2:g.72345518C= GRCh38
NC_000015.9:g.72637859C= , CM000677.1:g.72637859C= GRCh37
NC_000015.8:g.70424913C= NCBI36
NG_009017.1:g.35662G=
NG_009017.2:g.35662G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*114G= ENSP00000457521.2:n.*114G=
ENST00000682061.1:c.*1800G= ENSP00000508316.1:n.*1800G=
ENST00000682064.1:n.1681G=
ENST00000682177.1:c.1497G= ENSP00000507409.1:n.1497G=
ENST00000682235.1:n.1477G=
ENST00000682461.1:c.1560G= ENSP00000507308.1:n.1560G=
ENST00000682653.1:n.2458G=
ENST00000682657.1:c.*1291G= ENSP00000507753.1:n.*1291G=
ENST00000682721.1:c.*1257G= ENSP00000507535.1:n.*1257G=
ENST00000682843.1:c.*1095G= ENSP00000508173.1:n.*1095G=
ENST00000683003.1:c.*1291G= ENSP00000507576.1:n.*1291G=
ENST00000683133.1:c.1638G= ENSP00000508108.1:n.1638G=
ENST00000683243.1:c.*607G= ENSP00000507042.1:n.*607G=
ENST00000683463.1:c.*943G= ENSP00000507986.1:n.*943G=
ENST00000683548.1:n.1912G=
ENST00000683579.1:c.*1352G= ENSP00000506867.1:n.*1352G=
ENST00000683587.1:n.1985G=
ENST00000683681.1:c.*132G= ENSP00000508110.1:n.*132G=
ENST00000683735.1:c.*1852G= ENSP00000508336.1:n.*1852G=
ENST00000683853.1:c.*259G= ENSP00000506834.1:n.*259G=
ENST00000683860.1:c.*574G= ENSP00000507179.1:n.*574G=
ENST00000683884.1:c.*781G= ENSP00000507004.1:n.*781G=
ENST00000684041.1:c.*587G= ENSP00000508382.1:n.*587G=
ENST00000684125.1:c.*114G= ENSP00000507320.1:n.*114G=
ENST00000684203.1:n.3903G=
ENST00000684231.1:c.*864G= ENSP00000507748.1:n.*864G=
ENST00000684263.1:c.*1078G= ENSP00000508369.1:n.*1078G=
ENST00000684305.1:c.1902G= ENSP00000506819.1:n.1902G=
ENST00000684415.1:c.*1005G= ENSP00000507227.1:n.*1005G=
ENST00000684520.1:c.*713G= ENSP00000506826.1:n.*713G=
ENST00000684602.1:c.*1120G= ENSP00000507996.1:n.*1120G=
ENST00000684667.1:c.1785G= ENSP00000507003.1:n.1785G=
ENST00000268097.10:c.1454G= MANE Select ENSP00000268097.6:p.Trp485=
ENST00000268097.9:c.1454G= ENSP00000268097.5:p.Trp485=
ENST00000379915.4:c.536G= ENSP00000478716.1:p.Trp179=
ENST00000564677.5:n.246G=
ENST00000565873.1:n.365G=
ENST00000566304.5:c.1487G= ENSP00000455114.1:p.Trp496=
ENST00000567027.5:c.1069G=
ENST00000567159.5:c.1454G= ENSP00000456489.1:p.Trp485=
ENST00000567411.5:c.*975G= ENSP00000455545.1:n.*975G=
ENST00000568777.5:n.6674G=
ENST00000569116.1:n.161G=
NM_000520.4:c.1454G= NP_000511.2:p.Trp485=
NM_000520.5:c.1454G= NP_000511.2:p.Trp485=
NM_001318825.1:c.1487G= NP_001305754.1:p.Trp496=
NR_134869.1:n.1698G=
NM_000520.6:c.1454G= MANE Select NP_000511.2:p.Trp485=
NM_001318825.2:c.1487G= NP_001305754.1:p.Trp496=
NR_134869.2:n.1239G=
NR_134869.3:n.1239G=