Canonical Allele Identifier: CA393060925
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346621G>T , CM000677.2:g.72346621G>T GRCh38
NC_000015.9:g.72638962G>T , CM000677.1:g.72638962G>T GRCh37
NC_000015.8:g.70426016G>T NCBI36
NG_009017.1:g.34559C>A
NG_009017.2:g.34559C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000567027.6:c.1074-296C>A ENSP00000457521.2:n.1074-296C>A
ENST00000682061.1:c.*898C>A ENSP00000508316.1:n.*898C>A
ENST00000682064.1:n.578C>A
ENST00000682177.1:c.1279C>A ENSP00000507409.1:n.1279C>A
ENST00000682235.1:n.575C>A
ENST00000682461.1:c.1342C>A ENSP00000507308.1:n.1342C>A
ENST00000682653.1:n.1556C>A
ENST00000682657.1:c.*484-296C>A ENSP00000507753.1:n.*484-296C>A
ENST00000682721.1:c.*1039C>A ENSP00000507535.1:n.*1039C>A
ENST00000682843.1:c.*972-296C>A ENSP00000508173.1:n.*972-296C>A
ENST00000683003.1:c.*484-296C>A ENSP00000507576.1:n.*484-296C>A
ENST00000683133.1:c.1420C>A ENSP00000508108.1:n.1420C>A
ENST00000683243.1:c.*484-296C>A ENSP00000507042.1:n.*484-296C>A
ENST00000683463.1:c.*41C>A ENSP00000507986.1:n.*41C>A
ENST00000683548.1:n.1105-296C>A
ENST00000683579.1:c.*1134C>A ENSP00000506867.1:n.*1134C>A
ENST00000683587.1:n.1178-296C>A
ENST00000683681.1:c.1236C>A ENSP00000508110.1:p.Phe412Leu
ENST00000683735.1:c.*1045-296C>A ENSP00000508336.1:n.*1045-296C>A
ENST00000683853.1:c.*41C>A ENSP00000506834.1:n.*41C>A
ENST00000683860.1:c.1236C>A ENSP00000507179.1:p.Phe412Leu
ENST00000683884.1:c.1147-296C>A ENSP00000507004.1:n.1147-296C>A
ENST00000684041.1:c.1236C>A ENSP00000508382.1:p.Phe412Leu
ENST00000684125.1:c.1074-296C>A ENSP00000507320.1:n.1074-296C>A
ENST00000684203.1:n.3001C>A
ENST00000684231.1:c.*646C>A ENSP00000507748.1:n.*646C>A
ENST00000684263.1:c.*176C>A ENSP00000508369.1:n.*176C>A
ENST00000684305.1:c.1684C>A ENSP00000506819.1:n.1684C>A
ENST00000684415.1:c.*103C>A ENSP00000507227.1:n.*103C>A
ENST00000684520.1:c.1236C>A ENSP00000506826.1:p.Phe412Leu
ENST00000684602.1:c.*902C>A ENSP00000507996.1:n.*902C>A
ENST00000684667.1:c.1567C>A ENSP00000507003.1:n.1567C>A
ENST00000268097.10:c.1236C>A MANE Select ENSP00000268097.6:p.Phe412Leu
ENST00000268097.9:c.1236C>A ENSP00000268097.5:p.Phe412Leu
ENST00000379915.4:c.413-296C>A ENSP00000478716.1:n.413-296C>A
ENST00000563762.5:c.826-296C>A ENSP00000456346.1:n.826-296C>A
ENST00000566304.5:c.1269C>A ENSP00000455114.1:p.Phe423Leu
ENST00000566672.5:c.*646C>A ENSP00000457037.1:n.*646C>A
ENST00000567027.5:c.946-296C>A
ENST00000567159.5:c.1236C>A ENSP00000456489.1:p.Phe412Leu
ENST00000567411.5:c.*757C>A ENSP00000455545.1:n.*757C>A
ENST00000568777.5:n.6551-296C>A
ENST00000569410.5:c.*41C>A ENSP00000457125.1:n.*41C>A
NM_000520.4:c.1236C>A NP_000511.2:p.Phe412Leu
NM_000520.5:c.1236C>A NP_000511.2:p.Phe412Leu
NM_001318825.1:c.1269C>A NP_001305754.1:p.Phe423Leu
NR_134869.1:n.1575-296C>A
NM_000520.6:c.1236C>A MANE Select NP_000511.2:p.Phe412Leu
NM_001318825.2:c.1269C>A NP_001305754.1:p.Phe423Leu
NR_134869.2:n.1116-296C>A
NR_134869.3:n.1116-296C>A