Canonical Allele Identifier: CA393058687
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345492T>C , CM000677.2:g.72345492T>C GRCh38
NC_000015.9:g.72637833T>C , CM000677.1:g.72637833T>C GRCh37
NC_000015.8:g.70424887T>C NCBI36
NG_009017.1:g.35688A>G
NG_009017.2:g.35688A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000567027.6:c.*140A>G ENSP00000457521.2:n.*140A>G
ENST00000682061.1:c.*1826A>G ENSP00000508316.1:n.*1826A>G
ENST00000682064.1:n.1707A>G
ENST00000682177.1:c.1523A>G ENSP00000507409.1:n.1523A>G
ENST00000682235.1:n.1503A>G
ENST00000682461.1:c.1586A>G ENSP00000507308.1:n.1586A>G
ENST00000682653.1:n.2484A>G
ENST00000682657.1:c.*1317A>G ENSP00000507753.1:n.*1317A>G
ENST00000682721.1:c.*1283A>G ENSP00000507535.1:n.*1283A>G
ENST00000682843.1:c.*1121A>G ENSP00000508173.1:n.*1121A>G
ENST00000683003.1:c.*1317A>G ENSP00000507576.1:n.*1317A>G
ENST00000683133.1:c.1664A>G ENSP00000508108.1:n.1664A>G
ENST00000683243.1:c.*633A>G ENSP00000507042.1:n.*633A>G
ENST00000683463.1:c.*969A>G ENSP00000507986.1:n.*969A>G
ENST00000683548.1:n.1938A>G
ENST00000683579.1:c.*1378A>G ENSP00000506867.1:n.*1378A>G
ENST00000683587.1:n.2011A>G
ENST00000683681.1:c.*158A>G ENSP00000508110.1:n.*158A>G
ENST00000683735.1:c.*1878A>G ENSP00000508336.1:n.*1878A>G
ENST00000683853.1:c.*285A>G ENSP00000506834.1:n.*285A>G
ENST00000683860.1:c.*600A>G ENSP00000507179.1:n.*600A>G
ENST00000683884.1:c.*807A>G ENSP00000507004.1:n.*807A>G
ENST00000684041.1:c.*613A>G ENSP00000508382.1:n.*613A>G
ENST00000684125.1:c.*140A>G ENSP00000507320.1:n.*140A>G
ENST00000684203.1:n.3929A>G
ENST00000684231.1:c.*890A>G ENSP00000507748.1:n.*890A>G
ENST00000684263.1:c.*1104A>G ENSP00000508369.1:n.*1104A>G
ENST00000684305.1:c.1928A>G ENSP00000506819.1:n.1928A>G
ENST00000684415.1:c.*1031A>G ENSP00000507227.1:n.*1031A>G
ENST00000684520.1:c.*739A>G ENSP00000506826.1:n.*739A>G
ENST00000684602.1:c.*1146A>G ENSP00000507996.1:n.*1146A>G
ENST00000684667.1:c.1811A>G ENSP00000507003.1:n.1811A>G
ENST00000268097.10:c.1480A>G MANE Select ENSP00000268097.6:p.Thr494Ala
ENST00000268097.9:c.1480A>G ENSP00000268097.5:p.Thr494Ala
ENST00000379915.4:c.562A>G ENSP00000478716.1:p.Thr188Ala
ENST00000564677.5:n.272A>G
ENST00000565873.1:n.391A>G
ENST00000566304.5:c.1513A>G ENSP00000455114.1:p.Thr505Ala
ENST00000567027.5:c.1095A>G
ENST00000567159.5:c.1480A>G ENSP00000456489.1:p.Thr494Ala
ENST00000567411.5:c.*1001A>G ENSP00000455545.1:n.*1001A>G
ENST00000568777.5:n.6700A>G
ENST00000569116.1:n.187A>G
NM_000520.4:c.1480A>G NP_000511.2:p.Thr494Ala
NM_000520.5:c.1480A>G NP_000511.2:p.Thr494Ala
NM_001318825.1:c.1513A>G NP_001305754.1:p.Thr505Ala
NR_134869.1:n.1724A>G
NM_000520.6:c.1480A>G MANE Select NP_000511.2:p.Thr494Ala
NM_001318825.2:c.1513A>G NP_001305754.1:p.Thr505Ala
NR_134869.2:n.1265A>G
NR_134869.3:n.1265A>G