Canonical Allele Identifier: CA393061693
Community Standard Title: NM_000520.6(HEXA):c.1120C>T (p.Gln374Ter)
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72347712G>A , CM000677.2:g.72347712G>A GRCh38
NC_000015.9:g.72640053G>A , CM000677.1:g.72640053G>A GRCh37
NC_000015.8:g.70427107G>A NCBI36
NG_009017.1:g.33468C>T
NG_009017.2:g.33468C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000520.6:c.1120C>T MANE Select NP_000511.2:p.Gln374Ter
ENST00000268097.10:c.1120C>T MANE Select ENSP00000268097.6:p.Gln374Ter
NM_000520.4:c.1120C>T NP_000511.2:p.Gln374Ter
NM_000520.5:c.1120C>T NP_000511.2:p.Gln374Ter
NM_001318825.1:c.1153C>T NP_001305754.1:p.Gln385Ter
NM_001318825.2:c.1153C>T NP_001305754.1:p.Gln385Ter
NR_134869.1:n.1574+336C>T
NR_134869.2:n.1115+336C>T
NR_134869.3:n.1115+336C>T
ENST00000268097.9:c.1120C>T ENSP00000268097.5:p.Gln374Ter
ENST00000379915.4:c.413-1387C>T ENSP00000478716.1:n.413-1387C>T
ENST00000563762.5:c.825+336C>T ENSP00000456346.1:n.825+336C>T
ENST00000566304.5:c.1153C>T ENSP00000455114.1:p.Gln385Ter
ENST00000566672.5:c.*530C>T ENSP00000457037.1:n.*530C>T
ENST00000567027.5:c.945+336C>T
ENST00000567027.6:c.1073+336C>T ENSP00000457521.2:n.1073+336C>T
ENST00000567159.5:c.1120C>T ENSP00000456489.1:p.Gln374Ter
ENST00000567411.5:c.*641C>T ENSP00000455545.1:n.*641C>T
ENST00000568777.5:n.6524C>T
ENST00000569410.5:c.1073+336C>T ENSP00000457125.1:n.1073+336C>T
ENST00000682061.1:c.*782C>T ENSP00000508316.1:n.*782C>T
ENST00000682177.1:c.1163C>T ENSP00000507409.1:n.1163C>T
ENST00000682461.1:c.1226C>T ENSP00000507308.1:n.1226C>T
ENST00000682653.1:n.1440C>T
ENST00000682657.1:c.*483+336C>T ENSP00000507753.1:n.*483+336C>T
ENST00000682721.1:c.*923C>T ENSP00000507535.1:n.*923C>T
ENST00000682843.1:c.*971+336C>T ENSP00000508173.1:n.*971+336C>T
ENST00000683003.1:c.*483+336C>T ENSP00000507576.1:n.*483+336C>T
ENST00000683133.1:c.1304C>T ENSP00000508108.1:n.1304C>T
ENST00000683228.1:n.1151C>T
ENST00000683243.1:c.*483+336C>T ENSP00000507042.1:n.*483+336C>T
ENST00000683463.1:c.1073+336C>T ENSP00000507986.1:n.1073+336C>T
ENST00000683548.1:n.1104+336C>T
ENST00000683579.1:c.*1018C>T ENSP00000506867.1:n.*1018C>T
ENST00000683587.1:n.1151C>T
ENST00000683681.1:c.1120C>T ENSP00000508110.1:p.Gln374Ter
ENST00000683735.1:c.*1018C>T ENSP00000508336.1:n.*1018C>T
ENST00000683742.1:n.951C>T
ENST00000683853.1:c.1073+336C>T ENSP00000506834.1:n.1073+336C>T
ENST00000683860.1:c.1120C>T ENSP00000507179.1:p.Gln374Ter
ENST00000683884.1:c.1120C>T ENSP00000507004.1:p.Gln374Ter
ENST00000684041.1:c.1120C>T ENSP00000508382.1:p.Gln374Ter
ENST00000684125.1:c.1073+336C>T ENSP00000507320.1:n.1073+336C>T
ENST00000684203.1:n.2911+336C>T
ENST00000684231.1:c.*530C>T ENSP00000507748.1:n.*530C>T
ENST00000684263.1:c.*60C>T ENSP00000508369.1:n.*60C>T
ENST00000684305.1:c.1568C>T ENSP00000506819.1:n.1568C>T
ENST00000684415.1:c.*13+319C>T ENSP00000507227.1:n.*13+319C>T
ENST00000684520.1:c.1120C>T ENSP00000506826.1:p.Gln374Ter
ENST00000684602.1:c.*786C>T ENSP00000507996.1:n.*786C>T
ENST00000684667.1:c.1451C>T ENSP00000507003.1:n.1451C>T