Canonical Allele Identifier: CA2186743298
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345543C= , CM000677.2:g.72345543C= GRCh38
NC_000015.9:g.72637884C= , CM000677.1:g.72637884C= GRCh37
NC_000015.8:g.70424938C= NCBI36
NG_009017.1:g.35637G=
NG_009017.2:g.35637G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*89G= ENSP00000457521.2:n.*89G=
ENST00000682061.1:c.*1775G= ENSP00000508316.1:n.*1775G=
ENST00000682064.1:n.1656G=
ENST00000682177.1:c.1472G= ENSP00000507409.1:n.1472G=
ENST00000682235.1:n.1452G=
ENST00000682461.1:c.1535G= ENSP00000507308.1:n.1535G=
ENST00000682653.1:n.2433G=
ENST00000682657.1:c.*1266G= ENSP00000507753.1:n.*1266G=
ENST00000682721.1:c.*1232G= ENSP00000507535.1:n.*1232G=
ENST00000682843.1:c.*1070G= ENSP00000508173.1:n.*1070G=
ENST00000683003.1:c.*1266G= ENSP00000507576.1:n.*1266G=
ENST00000683133.1:c.1613G= ENSP00000508108.1:n.1613G=
ENST00000683243.1:c.*582G= ENSP00000507042.1:n.*582G=
ENST00000683463.1:c.*918G= ENSP00000507986.1:n.*918G=
ENST00000683548.1:n.1887G=
ENST00000683579.1:c.*1327G= ENSP00000506867.1:n.*1327G=
ENST00000683587.1:n.1960G=
ENST00000683681.1:c.*107G= ENSP00000508110.1:n.*107G=
ENST00000683735.1:c.*1827G= ENSP00000508336.1:n.*1827G=
ENST00000683853.1:c.*234G= ENSP00000506834.1:n.*234G=
ENST00000683860.1:c.*549G= ENSP00000507179.1:n.*549G=
ENST00000683884.1:c.*756G= ENSP00000507004.1:n.*756G=
ENST00000684041.1:c.*562G= ENSP00000508382.1:n.*562G=
ENST00000684125.1:c.*89G= ENSP00000507320.1:n.*89G=
ENST00000684203.1:n.3878G=
ENST00000684231.1:c.*839G= ENSP00000507748.1:n.*839G=
ENST00000684263.1:c.*1053G= ENSP00000508369.1:n.*1053G=
ENST00000684305.1:c.1877G= ENSP00000506819.1:n.1877G=
ENST00000684415.1:c.*980G= ENSP00000507227.1:n.*980G=
ENST00000684520.1:c.*688G= ENSP00000506826.1:n.*688G=
ENST00000684602.1:c.*1095G= ENSP00000507996.1:n.*1095G=
ENST00000684667.1:c.1760G= ENSP00000507003.1:n.1760G=
ENST00000268097.10:c.1429G= MANE Select ENSP00000268097.6:p.Ala477=
ENST00000268097.9:c.1429G= ENSP00000268097.5:p.Ala477=
ENST00000379915.4:c.511G= ENSP00000478716.1:p.Ala171=
ENST00000564677.5:n.221G=
ENST00000565873.1:n.340G=
ENST00000566304.5:c.1462G= ENSP00000455114.1:p.Ala488=
ENST00000567027.5:c.1044G=
ENST00000567159.5:c.1429G= ENSP00000456489.1:p.Ala477=
ENST00000567411.5:c.*950G= ENSP00000455545.1:n.*950G=
ENST00000568777.5:n.6649G=
ENST00000569116.1:n.136G=
NM_000520.4:c.1429G= NP_000511.2:p.Ala477=
NM_000520.5:c.1429G= NP_000511.2:p.Ala477=
NM_001318825.1:c.1462G= NP_001305754.1:p.Ala488=
NR_134869.1:n.1673G=
NM_000520.6:c.1429G= MANE Select NP_000511.2:p.Ala477=
NM_001318825.2:c.1462G= NP_001305754.1:p.Ala488=
NR_134869.2:n.1214G=
NR_134869.3:n.1214G=