Canonical Allele Identifier: CA7644706

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346263C>T , CM000677.2:g.72346263C>T	GRCh38
NC_000015.9:g.72638604C>T , CM000677.1:g.72638604C>T	GRCh37
NC_000015.8:g.70425658C>T	NCBI36
NG_009017.1:g.34917G>A
NG_009017.2:g.34917G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000520.6:c.1393G>A MANE Select	NP_000511.2:p.Asp465Asn
ENST00000268097.10:c.1393G>A MANE Select	ENSP00000268097.6:p.Asp465Asn
NM_000520.4:c.1393G>A	NP_000511.2:p.Asp465Asn
NM_000520.5:c.1393G>A	NP_000511.2:p.Asp465Asn
NM_001318825.1:c.1426G>A	NP_001305754.1:p.Asp476Asn
NM_001318825.2:c.1426G>A	NP_001305754.1:p.Asp476Asn
NR_134869.1:n.1637G>A
NR_134869.2:n.1178G>A
NR_134869.3:n.1178G>A
ENST00000268097.9:c.1393G>A	ENSP00000268097.5:p.Asp465Asn
ENST00000379915.4:c.475G>A	ENSP00000478716.1:p.Asp159Asn
ENST00000563762.5:c.888G>A	ENSP00000456346.1:n.888G>A
ENST00000566304.5:c.1426G>A	ENSP00000455114.1:p.Asp476Asn
ENST00000566672.5:c.*803G>A	ENSP00000457037.1:n.*803G>A
ENST00000567027.5:c.1008G>A
ENST00000567027.6:c.*53G>A	ENSP00000457521.2:n.*53G>A
ENST00000567159.5:c.1393G>A	ENSP00000456489.1:p.Asp465Asn
ENST00000567411.5:c.*914G>A	ENSP00000455545.1:n.*914G>A
ENST00000568777.5:n.6613G>A
ENST00000569410.5:c.*198G>A	ENSP00000457125.1:n.*198G>A
ENST00000682061.1:c.*1055G>A	ENSP00000508316.1:n.*1055G>A
ENST00000682064.1:n.936G>A
ENST00000682177.1:c.1436G>A	ENSP00000507409.1:n.1436G>A
ENST00000682235.1:n.732G>A
ENST00000682461.1:c.1499G>A	ENSP00000507308.1:n.1499G>A
ENST00000682653.1:n.1713G>A
ENST00000682657.1:c.*546G>A	ENSP00000507753.1:n.*546G>A
ENST00000682721.1:c.*1196G>A	ENSP00000507535.1:n.*1196G>A
ENST00000682843.1:c.*1034G>A	ENSP00000508173.1:n.*1034G>A
ENST00000683003.1:c.*546G>A	ENSP00000507576.1:n.*546G>A
ENST00000683133.1:c.1577G>A	ENSP00000508108.1:n.1577G>A
ENST00000683243.1:c.*546G>A	ENSP00000507042.1:n.*546G>A
ENST00000683463.1:c.*198G>A	ENSP00000507986.1:n.*198G>A
ENST00000683548.1:n.1167G>A
ENST00000683579.1:c.*1291G>A	ENSP00000506867.1:n.*1291G>A
ENST00000683587.1:n.1240G>A
ENST00000683681.1:c.1393G>A	ENSP00000508110.1:p.Asp465Asn
ENST00000683735.1:c.*1107G>A	ENSP00000508336.1:n.*1107G>A
ENST00000683853.1:c.*198G>A	ENSP00000506834.1:n.*198G>A
ENST00000683860.1:c.1393G>A	ENSP00000507179.1:p.Asp465Asn
ENST00000683884.1:c.*36G>A	ENSP00000507004.1:n.*36G>A
ENST00000684041.1:c.1393G>A	ENSP00000508382.1:p.Asp465Asn
ENST00000684125.1:c.*53G>A	ENSP00000507320.1:n.*53G>A
ENST00000684203.1:n.3158G>A
ENST00000684231.1:c.*803G>A	ENSP00000507748.1:n.*803G>A
ENST00000684263.1:c.*333G>A	ENSP00000508369.1:n.*333G>A
ENST00000684305.1:c.1841G>A	ENSP00000506819.1:n.1841G>A
ENST00000684415.1:c.*260G>A	ENSP00000507227.1:n.*260G>A
ENST00000684520.1:c.1393G>A	ENSP00000506826.1:p.Asp465Asn
ENST00000684602.1:c.*1059G>A	ENSP00000507996.1:n.*1059G>A
ENST00000684667.1:c.1724G>A	ENSP00000507003.1:n.1724G>A