Canonical Allele Identifier: CA393061837
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72348056G>T , CM000677.2:g.72348056G>T GRCh38
NC_000015.9:g.72640397G>T , CM000677.1:g.72640397G>T GRCh37
NC_000015.8:g.70427451G>T NCBI36
NG_009017.1:g.33124C>A
NG_009017.2:g.33124C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000563908.2:n.3411C>A
ENST00000567027.6:c.1065C>A ENSP00000457521.2:p.Tyr355Ter
ENST00000682061.1:c.*727C>A ENSP00000508316.1:n.*727C>A
ENST00000682177.1:c.1108C>A ENSP00000507409.1:n.1108C>A
ENST00000682461.1:c.1171C>A ENSP00000507308.1:n.1171C>A
ENST00000682653.1:n.1096C>A
ENST00000682657.1:c.*475C>A ENSP00000507753.1:n.*475C>A
ENST00000682721.1:c.*868C>A ENSP00000507535.1:n.*868C>A
ENST00000682843.1:c.*963C>A ENSP00000508173.1:n.*963C>A
ENST00000683003.1:c.*475C>A ENSP00000507576.1:n.*475C>A
ENST00000683133.1:c.1249C>A ENSP00000508108.1:n.1249C>A
ENST00000683228.1:n.1096C>A
ENST00000683243.1:c.*475C>A ENSP00000507042.1:n.*475C>A
ENST00000683463.1:c.1065C>A ENSP00000507986.1:p.Tyr355Ter
ENST00000683548.1:n.1096C>A
ENST00000683579.1:c.*963C>A ENSP00000506867.1:n.*963C>A
ENST00000683587.1:n.1096C>A
ENST00000683681.1:c.1065C>A ENSP00000508110.1:p.Tyr355Ter
ENST00000683735.1:c.*963C>A ENSP00000508336.1:n.*963C>A
ENST00000683742.1:n.896C>A
ENST00000683853.1:c.1065C>A ENSP00000506834.1:p.Tyr355Ter
ENST00000683860.1:c.1065C>A ENSP00000507179.1:p.Tyr355Ter
ENST00000683884.1:c.1065C>A ENSP00000507004.1:p.Tyr355Ter
ENST00000684041.1:c.1065C>A ENSP00000508382.1:p.Tyr355Ter
ENST00000684125.1:c.1065C>A ENSP00000507320.1:p.Tyr355Ter
ENST00000684203.1:n.2903C>A
ENST00000684231.1:c.*475C>A ENSP00000507748.1:n.*475C>A
ENST00000684263.1:c.1065C>A ENSP00000508369.1:p.Tyr355Ter
ENST00000684305.1:c.1513C>A ENSP00000506819.1:n.1513C>A
ENST00000684415.1:c.1065C>A ENSP00000507227.1:p.Tyr355Ter
ENST00000684520.1:c.1065C>A ENSP00000506826.1:p.Tyr355Ter
ENST00000684602.1:c.*731C>A ENSP00000507996.1:n.*731C>A
ENST00000684667.1:c.1396C>A ENSP00000507003.1:n.1396C>A
ENST00000268097.10:c.1065C>A MANE Select ENSP00000268097.6:p.Tyr355Ter
ENST00000268097.9:c.1065C>A ENSP00000268097.5:p.Tyr355Ter
ENST00000379915.4:c.413-1731C>A ENSP00000478716.1:n.413-1731C>A
ENST00000563762.5:c.817C>A ENSP00000456346.1:n.817C>A
ENST00000566304.5:c.1098C>A ENSP00000455114.1:p.Tyr366Ter
ENST00000566672.5:c.*475C>A ENSP00000457037.1:n.*475C>A
ENST00000567027.5:c.937C>A
ENST00000567159.5:c.1065C>A ENSP00000456489.1:p.Tyr355Ter
ENST00000567411.5:c.*586C>A ENSP00000455545.1:n.*586C>A
ENST00000568777.5:n.6469C>A
ENST00000569410.5:c.1065C>A ENSP00000457125.1:p.Tyr355Ter
NM_000520.4:c.1065C>A NP_000511.2:p.Tyr355Ter
NM_000520.5:c.1065C>A NP_000511.2:p.Tyr355Ter
NM_001318825.1:c.1098C>A NP_001305754.1:p.Tyr366Ter
NR_134869.1:n.1566C>A
NM_000520.6:c.1065C>A MANE Select NP_000511.2:p.Tyr355Ter
NM_001318825.2:c.1098C>A NP_001305754.1:p.Tyr366Ter
NR_134869.2:n.1107C>A
NR_134869.3:n.1107C>A