Canonical Allele Identifier: CA2186743268
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345482T= , CM000677.2:g.72345482T= GRCh38
NC_000015.9:g.72637823T= , CM000677.1:g.72637823T= GRCh37
NC_000015.8:g.70424877T= NCBI36
NG_009017.1:g.35698A=
NG_009017.2:g.35698A=

Transcript Alleles

HGVS Amino-acid change
ENST00000567027.6:c.*150A= ENSP00000457521.2:n.*150A=
ENST00000682061.1:c.*1836A= ENSP00000508316.1:n.*1836A=
ENST00000682064.1:n.1717A=
ENST00000682177.1:c.1533A= ENSP00000507409.1:n.1533A=
ENST00000682235.1:n.1513A=
ENST00000682461.1:c.1596A= ENSP00000507308.1:n.1596A=
ENST00000682653.1:n.2494A=
ENST00000682657.1:c.*1327A= ENSP00000507753.1:n.*1327A=
ENST00000682721.1:c.*1293A= ENSP00000507535.1:n.*1293A=
ENST00000682843.1:c.*1131A= ENSP00000508173.1:n.*1131A=
ENST00000683003.1:c.*1327A= ENSP00000507576.1:n.*1327A=
ENST00000683133.1:c.1674A= ENSP00000508108.1:n.1674A=
ENST00000683243.1:c.*643A= ENSP00000507042.1:n.*643A=
ENST00000683463.1:c.*979A= ENSP00000507986.1:n.*979A=
ENST00000683548.1:n.1948A=
ENST00000683579.1:c.*1388A= ENSP00000506867.1:n.*1388A=
ENST00000683587.1:n.2021A=
ENST00000683681.1:c.*168A= ENSP00000508110.1:n.*168A=
ENST00000683735.1:c.*1888A= ENSP00000508336.1:n.*1888A=
ENST00000683853.1:c.*295A= ENSP00000506834.1:n.*295A=
ENST00000683860.1:c.*610A= ENSP00000507179.1:n.*610A=
ENST00000683884.1:c.*817A= ENSP00000507004.1:n.*817A=
ENST00000684041.1:c.*623A= ENSP00000508382.1:n.*623A=
ENST00000684125.1:c.*150A= ENSP00000507320.1:n.*150A=
ENST00000684203.1:n.3939A=
ENST00000684231.1:c.*900A= ENSP00000507748.1:n.*900A=
ENST00000684263.1:c.*1114A= ENSP00000508369.1:n.*1114A=
ENST00000684305.1:c.1938A= ENSP00000506819.1:n.1938A=
ENST00000684415.1:c.*1041A= ENSP00000507227.1:n.*1041A=
ENST00000684520.1:c.*749A= ENSP00000506826.1:n.*749A=
ENST00000684602.1:c.*1156A= ENSP00000507996.1:n.*1156A=
ENST00000684667.1:c.1821A= ENSP00000507003.1:n.1821A=
ENST00000268097.10:c.1490A= MANE Select ENSP00000268097.6:p.Tyr497=
ENST00000268097.9:c.1490A= ENSP00000268097.5:p.Tyr497=
ENST00000379915.4:c.572A= ENSP00000478716.1:p.Tyr191=
ENST00000564677.5:n.282A=
ENST00000565873.1:n.401A=
ENST00000566304.5:c.1523A= ENSP00000455114.1:p.Tyr508=
ENST00000567027.5:c.1105A=
ENST00000567159.5:c.1490A= ENSP00000456489.1:p.Tyr497=
ENST00000567411.5:c.*1011A= ENSP00000455545.1:n.*1011A=
ENST00000568777.5:n.6710A=
ENST00000569116.1:n.197A=
NM_000520.4:c.1490A= NP_000511.2:p.Tyr497=
NM_000520.5:c.1490A= NP_000511.2:p.Tyr497=
NM_001318825.1:c.1523A= NP_001305754.1:p.Tyr508=
NR_134869.1:n.1734A=
NM_000520.6:c.1490A= MANE Select NP_000511.2:p.Tyr497=
NM_001318825.2:c.1523A= NP_001305754.1:p.Tyr508=
NR_134869.2:n.1275A=
NR_134869.3:n.1275A=