Canonical Allele Identifier: CA491117263

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638950G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346609G>T , CM000677.2:g.72346609G>T	GRCh38
NC_000015.9:g.72638950G>T , CM000677.1:g.72638950G>T	GRCh37
NC_000015.8:g.70426004G>T	NCBI36
NG_009017.1:g.34571C>A
NG_009017.2:g.34571C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.1074-284C>A	ENSP00000457521.2:n.1074-284C>A
ENST00000682061.1:c.*910C>A	ENSP00000508316.1:n.*910C>A
ENST00000682064.1:n.590C>A
ENST00000682177.1:c.1291C>A	ENSP00000507409.1:n.1291C>A
ENST00000682235.1:n.587C>A
ENST00000682461.1:c.1354C>A	ENSP00000507308.1:n.1354C>A
ENST00000682653.1:n.1568C>A
ENST00000682657.1:c.*484-284C>A	ENSP00000507753.1:n.*484-284C>A
ENST00000682721.1:c.*1051C>A	ENSP00000507535.1:n.*1051C>A
ENST00000682843.1:c.*972-284C>A	ENSP00000508173.1:n.*972-284C>A
ENST00000683003.1:c.*484-284C>A	ENSP00000507576.1:n.*484-284C>A
ENST00000683133.1:c.1432C>A	ENSP00000508108.1:n.1432C>A
ENST00000683243.1:c.*484-284C>A	ENSP00000507042.1:n.*484-284C>A
ENST00000683463.1:c.*53C>A	ENSP00000507986.1:n.*53C>A
ENST00000683548.1:n.1105-284C>A
ENST00000683579.1:c.*1146C>A	ENSP00000506867.1:n.*1146C>A
ENST00000683587.1:n.1178-284C>A
ENST00000683681.1:c.1248C>A	ENSP00000508110.1:p.Leu416=
ENST00000683735.1:c.*1045-284C>A	ENSP00000508336.1:n.*1045-284C>A
ENST00000683853.1:c.*53C>A	ENSP00000506834.1:n.*53C>A
ENST00000683860.1:c.1248C>A	ENSP00000507179.1:p.Leu416=
ENST00000683884.1:c.1147-284C>A	ENSP00000507004.1:n.1147-284C>A
ENST00000684041.1:c.1248C>A	ENSP00000508382.1:p.Leu416=
ENST00000684125.1:c.1074-284C>A	ENSP00000507320.1:n.1074-284C>A
ENST00000684203.1:n.3013C>A
ENST00000684231.1:c.*658C>A	ENSP00000507748.1:n.*658C>A
ENST00000684263.1:c.*188C>A	ENSP00000508369.1:n.*188C>A
ENST00000684305.1:c.1696C>A	ENSP00000506819.1:n.1696C>A
ENST00000684415.1:c.*115C>A	ENSP00000507227.1:n.*115C>A
ENST00000684520.1:c.1248C>A	ENSP00000506826.1:p.Leu416=
ENST00000684602.1:c.*914C>A	ENSP00000507996.1:n.*914C>A
ENST00000684667.1:c.1579C>A	ENSP00000507003.1:n.1579C>A
ENST00000268097.10:c.1248C>A MANE Select	ENSP00000268097.6:p.Leu416=
ENST00000268097.9:c.1248C>A	ENSP00000268097.5:p.Leu416=
ENST00000379915.4:c.413-284C>A	ENSP00000478716.1:n.413-284C>A
ENST00000563762.5:c.826-284C>A	ENSP00000456346.1:n.826-284C>A
ENST00000566304.5:c.1281C>A	ENSP00000455114.1:p.Leu427=
ENST00000566672.5:c.*658C>A	ENSP00000457037.1:n.*658C>A
ENST00000567027.5:c.946-284C>A
ENST00000567159.5:c.1248C>A	ENSP00000456489.1:p.Leu416=
ENST00000567411.5:c.*769C>A	ENSP00000455545.1:n.*769C>A
ENST00000568777.5:n.6551-284C>A
ENST00000569410.5:c.*53C>A	ENSP00000457125.1:n.*53C>A
NM_000520.4:c.1248C>A	NP_000511.2:p.Leu416=
NM_000520.5:c.1248C>A	NP_000511.2:p.Leu416=
NM_001318825.1:c.1281C>A	NP_001305754.1:p.Leu427=
NR_134869.1:n.1575-284C>A
NM_000520.6:c.1248C>A MANE Select	NP_000511.2:p.Leu416=
NM_001318825.2:c.1281C>A	NP_001305754.1:p.Leu427=
NR_134869.2:n.1116-284C>A
NR_134869.3:n.1116-284C>A