Canonical Allele Identifier: CA2186743285
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345519A= , CM000677.2:g.72345519A= GRCh38
NC_000015.9:g.72637860A= , CM000677.1:g.72637860A= GRCh37
NC_000015.8:g.70424914A= NCBI36
NG_009017.1:g.35661T=
NG_009017.2:g.35661T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*113T= ENSP00000457521.2:n.*113T=
ENST00000682061.1:c.*1799T= ENSP00000508316.1:n.*1799T=
ENST00000682064.1:n.1680T=
ENST00000682177.1:c.1496T= ENSP00000507409.1:n.1496T=
ENST00000682235.1:n.1476T=
ENST00000682461.1:c.1559T= ENSP00000507308.1:n.1559T=
ENST00000682653.1:n.2457T=
ENST00000682657.1:c.*1290T= ENSP00000507753.1:n.*1290T=
ENST00000682721.1:c.*1256T= ENSP00000507535.1:n.*1256T=
ENST00000682843.1:c.*1094T= ENSP00000508173.1:n.*1094T=
ENST00000683003.1:c.*1290T= ENSP00000507576.1:n.*1290T=
ENST00000683133.1:c.1637T= ENSP00000508108.1:n.1637T=
ENST00000683243.1:c.*606T= ENSP00000507042.1:n.*606T=
ENST00000683463.1:c.*942T= ENSP00000507986.1:n.*942T=
ENST00000683548.1:n.1911T=
ENST00000683579.1:c.*1351T= ENSP00000506867.1:n.*1351T=
ENST00000683587.1:n.1984T=
ENST00000683681.1:c.*131T= ENSP00000508110.1:n.*131T=
ENST00000683735.1:c.*1851T= ENSP00000508336.1:n.*1851T=
ENST00000683853.1:c.*258T= ENSP00000506834.1:n.*258T=
ENST00000683860.1:c.*573T= ENSP00000507179.1:n.*573T=
ENST00000683884.1:c.*780T= ENSP00000507004.1:n.*780T=
ENST00000684041.1:c.*586T= ENSP00000508382.1:n.*586T=
ENST00000684125.1:c.*113T= ENSP00000507320.1:n.*113T=
ENST00000684203.1:n.3902T=
ENST00000684231.1:c.*863T= ENSP00000507748.1:n.*863T=
ENST00000684263.1:c.*1077T= ENSP00000508369.1:n.*1077T=
ENST00000684305.1:c.1901T= ENSP00000506819.1:n.1901T=
ENST00000684415.1:c.*1004T= ENSP00000507227.1:n.*1004T=
ENST00000684520.1:c.*712T= ENSP00000506826.1:n.*712T=
ENST00000684602.1:c.*1119T= ENSP00000507996.1:n.*1119T=
ENST00000684667.1:c.1784T= ENSP00000507003.1:n.1784T=
ENST00000268097.10:c.1453T= MANE Select ENSP00000268097.6:p.Trp485=
ENST00000268097.9:c.1453T= ENSP00000268097.5:p.Trp485=
ENST00000379915.4:c.535T= ENSP00000478716.1:p.Trp179=
ENST00000564677.5:n.245T=
ENST00000565873.1:n.364T=
ENST00000566304.5:c.1486T= ENSP00000455114.1:p.Trp496=
ENST00000567027.5:c.1068T=
ENST00000567159.5:c.1453T= ENSP00000456489.1:p.Trp485=
ENST00000567411.5:c.*974T= ENSP00000455545.1:n.*974T=
ENST00000568777.5:n.6673T=
ENST00000569116.1:n.160T=
NM_000520.4:c.1453T= NP_000511.2:p.Trp485=
NM_000520.5:c.1453T= NP_000511.2:p.Trp485=
NM_001318825.1:c.1486T= NP_001305754.1:p.Trp496=
NR_134869.1:n.1697T=
NM_000520.6:c.1453T= MANE Select NP_000511.2:p.Trp485=
NM_001318825.2:c.1486T= NP_001305754.1:p.Trp496=
NR_134869.2:n.1238T=
NR_134869.3:n.1238T=