Canonical Allele Identifier: CA2186743297
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345540C= , CM000677.2:g.72345540C= GRCh38
NC_000015.9:g.72637881C= , CM000677.1:g.72637881C= GRCh37
NC_000015.8:g.70424935C= NCBI36
NG_009017.1:g.35640G=
NG_009017.2:g.35640G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*92G= ENSP00000457521.2:n.*92G=
ENST00000682061.1:c.*1778G= ENSP00000508316.1:n.*1778G=
ENST00000682064.1:n.1659G=
ENST00000682177.1:c.1475G= ENSP00000507409.1:n.1475G=
ENST00000682235.1:n.1455G=
ENST00000682461.1:c.1538G= ENSP00000507308.1:n.1538G=
ENST00000682653.1:n.2436G=
ENST00000682657.1:c.*1269G= ENSP00000507753.1:n.*1269G=
ENST00000682721.1:c.*1235G= ENSP00000507535.1:n.*1235G=
ENST00000682843.1:c.*1073G= ENSP00000508173.1:n.*1073G=
ENST00000683003.1:c.*1269G= ENSP00000507576.1:n.*1269G=
ENST00000683133.1:c.1616G= ENSP00000508108.1:n.1616G=
ENST00000683243.1:c.*585G= ENSP00000507042.1:n.*585G=
ENST00000683463.1:c.*921G= ENSP00000507986.1:n.*921G=
ENST00000683548.1:n.1890G=
ENST00000683579.1:c.*1330G= ENSP00000506867.1:n.*1330G=
ENST00000683587.1:n.1963G=
ENST00000683681.1:c.*110G= ENSP00000508110.1:n.*110G=
ENST00000683735.1:c.*1830G= ENSP00000508336.1:n.*1830G=
ENST00000683853.1:c.*237G= ENSP00000506834.1:n.*237G=
ENST00000683860.1:c.*552G= ENSP00000507179.1:n.*552G=
ENST00000683884.1:c.*759G= ENSP00000507004.1:n.*759G=
ENST00000684041.1:c.*565G= ENSP00000508382.1:n.*565G=
ENST00000684125.1:c.*92G= ENSP00000507320.1:n.*92G=
ENST00000684203.1:n.3881G=
ENST00000684231.1:c.*842G= ENSP00000507748.1:n.*842G=
ENST00000684263.1:c.*1056G= ENSP00000508369.1:n.*1056G=
ENST00000684305.1:c.1880G= ENSP00000506819.1:n.1880G=
ENST00000684415.1:c.*983G= ENSP00000507227.1:n.*983G=
ENST00000684520.1:c.*691G= ENSP00000506826.1:n.*691G=
ENST00000684602.1:c.*1098G= ENSP00000507996.1:n.*1098G=
ENST00000684667.1:c.1763G= ENSP00000507003.1:n.1763G=
ENST00000268097.10:c.1432G= MANE Select ENSP00000268097.6:p.Gly478=
ENST00000268097.9:c.1432G= ENSP00000268097.5:p.Gly478=
ENST00000379915.4:c.514G= ENSP00000478716.1:p.Gly172=
ENST00000564677.5:n.224G=
ENST00000565873.1:n.343G=
ENST00000566304.5:c.1465G= ENSP00000455114.1:p.Gly489=
ENST00000567027.5:c.1047G=
ENST00000567159.5:c.1432G= ENSP00000456489.1:p.Gly478=
ENST00000567411.5:c.*953G= ENSP00000455545.1:n.*953G=
ENST00000568777.5:n.6652G=
ENST00000569116.1:n.139G=
NM_000520.4:c.1432G= NP_000511.2:p.Gly478=
NM_000520.5:c.1432G= NP_000511.2:p.Gly478=
NM_001318825.1:c.1465G= NP_001305754.1:p.Gly489=
NR_134869.1:n.1676G=
NM_000520.6:c.1432G= MANE Select NP_000511.2:p.Gly478=
NM_001318825.2:c.1465G= NP_001305754.1:p.Gly489=
NR_134869.2:n.1217G=
NR_134869.3:n.1217G=