Canonical Allele Identifier: CA491117278

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638953A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346612A>C , CM000677.2:g.72346612A>C	GRCh38
NC_000015.9:g.72638953A>C , CM000677.1:g.72638953A>C	GRCh37
NC_000015.8:g.70426007A>C	NCBI36
NG_009017.1:g.34568T>G
NG_009017.2:g.34568T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.1074-287T>G	ENSP00000457521.2:n.1074-287T>G
ENST00000682061.1:c.*907T>G	ENSP00000508316.1:n.*907T>G
ENST00000682064.1:n.587T>G
ENST00000682177.1:c.1288T>G	ENSP00000507409.1:n.1288T>G
ENST00000682235.1:n.584T>G
ENST00000682461.1:c.1351T>G	ENSP00000507308.1:n.1351T>G
ENST00000682653.1:n.1565T>G
ENST00000682657.1:c.*484-287T>G	ENSP00000507753.1:n.*484-287T>G
ENST00000682721.1:c.*1048T>G	ENSP00000507535.1:n.*1048T>G
ENST00000682843.1:c.*972-287T>G	ENSP00000508173.1:n.*972-287T>G
ENST00000683003.1:c.*484-287T>G	ENSP00000507576.1:n.*484-287T>G
ENST00000683133.1:c.1429T>G	ENSP00000508108.1:n.1429T>G
ENST00000683243.1:c.*484-287T>G	ENSP00000507042.1:n.*484-287T>G
ENST00000683463.1:c.*50T>G	ENSP00000507986.1:n.*50T>G
ENST00000683548.1:n.1105-287T>G
ENST00000683579.1:c.*1143T>G	ENSP00000506867.1:n.*1143T>G
ENST00000683587.1:n.1178-287T>G
ENST00000683681.1:c.1245T>G	ENSP00000508110.1:p.Leu415=
ENST00000683735.1:c.*1045-287T>G	ENSP00000508336.1:n.*1045-287T>G
ENST00000683853.1:c.*50T>G	ENSP00000506834.1:n.*50T>G
ENST00000683860.1:c.1245T>G	ENSP00000507179.1:p.Leu415=
ENST00000683884.1:c.1147-287T>G	ENSP00000507004.1:n.1147-287T>G
ENST00000684041.1:c.1245T>G	ENSP00000508382.1:p.Leu415=
ENST00000684125.1:c.1074-287T>G	ENSP00000507320.1:n.1074-287T>G
ENST00000684203.1:n.3010T>G
ENST00000684231.1:c.*655T>G	ENSP00000507748.1:n.*655T>G
ENST00000684263.1:c.*185T>G	ENSP00000508369.1:n.*185T>G
ENST00000684305.1:c.1693T>G	ENSP00000506819.1:n.1693T>G
ENST00000684415.1:c.*112T>G	ENSP00000507227.1:n.*112T>G
ENST00000684520.1:c.1245T>G	ENSP00000506826.1:p.Leu415=
ENST00000684602.1:c.*911T>G	ENSP00000507996.1:n.*911T>G
ENST00000684667.1:c.1576T>G	ENSP00000507003.1:n.1576T>G
ENST00000268097.10:c.1245T>G MANE Select	ENSP00000268097.6:p.Leu415=
ENST00000268097.9:c.1245T>G	ENSP00000268097.5:p.Leu415=
ENST00000379915.4:c.413-287T>G	ENSP00000478716.1:n.413-287T>G
ENST00000563762.5:c.826-287T>G	ENSP00000456346.1:n.826-287T>G
ENST00000566304.5:c.1278T>G	ENSP00000455114.1:p.Leu426=
ENST00000566672.5:c.*655T>G	ENSP00000457037.1:n.*655T>G
ENST00000567027.5:c.946-287T>G
ENST00000567159.5:c.1245T>G	ENSP00000456489.1:p.Leu415=
ENST00000567411.5:c.*766T>G	ENSP00000455545.1:n.*766T>G
ENST00000568777.5:n.6551-287T>G
ENST00000569410.5:c.*50T>G	ENSP00000457125.1:n.*50T>G
NM_000520.4:c.1245T>G	NP_000511.2:p.Leu415=
NM_000520.5:c.1245T>G	NP_000511.2:p.Leu415=
NM_001318825.1:c.1278T>G	NP_001305754.1:p.Leu426=
NR_134869.1:n.1575-287T>G
NM_000520.6:c.1245T>G MANE Select	NP_000511.2:p.Leu415=
NM_001318825.2:c.1278T>G	NP_001305754.1:p.Leu426=
NR_134869.2:n.1116-287T>G
NR_134869.3:n.1116-287T>G