Canonical Allele Identifier: CA2186743288
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345528C= , CM000677.2:g.72345528C= GRCh38
NC_000015.9:g.72637869C= , CM000677.1:g.72637869C= GRCh37
NC_000015.8:g.70424923C= NCBI36
NG_009017.1:g.35652G=
NG_009017.2:g.35652G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*104G= ENSP00000457521.2:n.*104G=
ENST00000682061.1:c.*1790G= ENSP00000508316.1:n.*1790G=
ENST00000682064.1:n.1671G=
ENST00000682177.1:c.1487G= ENSP00000507409.1:n.1487G=
ENST00000682235.1:n.1467G=
ENST00000682461.1:c.1550G= ENSP00000507308.1:n.1550G=
ENST00000682653.1:n.2448G=
ENST00000682657.1:c.*1281G= ENSP00000507753.1:n.*1281G=
ENST00000682721.1:c.*1247G= ENSP00000507535.1:n.*1247G=
ENST00000682843.1:c.*1085G= ENSP00000508173.1:n.*1085G=
ENST00000683003.1:c.*1281G= ENSP00000507576.1:n.*1281G=
ENST00000683133.1:c.1628G= ENSP00000508108.1:n.1628G=
ENST00000683243.1:c.*597G= ENSP00000507042.1:n.*597G=
ENST00000683463.1:c.*933G= ENSP00000507986.1:n.*933G=
ENST00000683548.1:n.1902G=
ENST00000683579.1:c.*1342G= ENSP00000506867.1:n.*1342G=
ENST00000683587.1:n.1975G=
ENST00000683681.1:c.*122G= ENSP00000508110.1:n.*122G=
ENST00000683735.1:c.*1842G= ENSP00000508336.1:n.*1842G=
ENST00000683853.1:c.*249G= ENSP00000506834.1:n.*249G=
ENST00000683860.1:c.*564G= ENSP00000507179.1:n.*564G=
ENST00000683884.1:c.*771G= ENSP00000507004.1:n.*771G=
ENST00000684041.1:c.*577G= ENSP00000508382.1:n.*577G=
ENST00000684125.1:c.*104G= ENSP00000507320.1:n.*104G=
ENST00000684203.1:n.3893G=
ENST00000684231.1:c.*854G= ENSP00000507748.1:n.*854G=
ENST00000684263.1:c.*1068G= ENSP00000508369.1:n.*1068G=
ENST00000684305.1:c.1892G= ENSP00000506819.1:n.1892G=
ENST00000684415.1:c.*995G= ENSP00000507227.1:n.*995G=
ENST00000684520.1:c.*703G= ENSP00000506826.1:n.*703G=
ENST00000684602.1:c.*1110G= ENSP00000507996.1:n.*1110G=
ENST00000684667.1:c.1775G= ENSP00000507003.1:n.1775G=
ENST00000268097.10:c.1444G= MANE Select ENSP00000268097.6:p.Glu482=
ENST00000268097.9:c.1444G= ENSP00000268097.5:p.Glu482=
ENST00000379915.4:c.526G= ENSP00000478716.1:p.Glu176=
ENST00000564677.5:n.236G=
ENST00000565873.1:n.355G=
ENST00000566304.5:c.1477G= ENSP00000455114.1:p.Glu493=
ENST00000567027.5:c.1059G=
ENST00000567159.5:c.1444G= ENSP00000456489.1:p.Glu482=
ENST00000567411.5:c.*965G= ENSP00000455545.1:n.*965G=
ENST00000568777.5:n.6664G=
ENST00000569116.1:n.151G=
NM_000520.4:c.1444G= NP_000511.2:p.Glu482=
NM_000520.5:c.1444G= NP_000511.2:p.Glu482=
NM_001318825.1:c.1477G= NP_001305754.1:p.Glu493=
NR_134869.1:n.1688G=
NM_000520.6:c.1444G= MANE Select NP_000511.2:p.Glu482=
NM_001318825.2:c.1477G= NP_001305754.1:p.Glu493=
NR_134869.2:n.1229G=
NR_134869.3:n.1229G=