Canonical Allele Identifier: CA491118762

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72640433G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72348092G>A , CM000677.2:g.72348092G>A	GRCh38
NC_000015.9:g.72640433G>A , CM000677.1:g.72640433G>A	GRCh37
NC_000015.8:g.70427487G>A	NCBI36
NG_009017.1:g.33088C>T
NG_009017.2:g.33088C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.3375C>T
ENST00000567027.6:c.1029C>T	ENSP00000457521.2:p.Gly343=
ENST00000682061.1:c.*691C>T	ENSP00000508316.1:n.*691C>T
ENST00000682177.1:c.1072C>T	ENSP00000507409.1:n.1072C>T
ENST00000682461.1:c.1135C>T	ENSP00000507308.1:n.1135C>T
ENST00000682653.1:n.1060C>T
ENST00000682657.1:c.*439C>T	ENSP00000507753.1:n.*439C>T
ENST00000682721.1:c.*832C>T	ENSP00000507535.1:n.*832C>T
ENST00000682843.1:c.*927C>T	ENSP00000508173.1:n.*927C>T
ENST00000683003.1:c.*439C>T	ENSP00000507576.1:n.*439C>T
ENST00000683133.1:c.1213C>T	ENSP00000508108.1:n.1213C>T
ENST00000683228.1:n.1060C>T
ENST00000683243.1:c.*439C>T	ENSP00000507042.1:n.*439C>T
ENST00000683463.1:c.1029C>T	ENSP00000507986.1:p.Gly343=
ENST00000683548.1:n.1060C>T
ENST00000683579.1:c.*927C>T	ENSP00000506867.1:n.*927C>T
ENST00000683587.1:n.1060C>T
ENST00000683681.1:c.1029C>T	ENSP00000508110.1:p.Gly343=
ENST00000683735.1:c.*927C>T	ENSP00000508336.1:n.*927C>T
ENST00000683742.1:n.860C>T
ENST00000683853.1:c.1029C>T	ENSP00000506834.1:p.Gly343=
ENST00000683860.1:c.1029C>T	ENSP00000507179.1:p.Gly343=
ENST00000683884.1:c.1029C>T	ENSP00000507004.1:p.Gly343=
ENST00000684041.1:c.1029C>T	ENSP00000508382.1:p.Gly343=
ENST00000684125.1:c.1029C>T	ENSP00000507320.1:p.Gly343=
ENST00000684203.1:n.2867C>T
ENST00000684231.1:c.*439C>T	ENSP00000507748.1:n.*439C>T
ENST00000684263.1:c.1029C>T	ENSP00000508369.1:p.Gly343=
ENST00000684305.1:c.1477C>T	ENSP00000506819.1:n.1477C>T
ENST00000684415.1:c.1029C>T	ENSP00000507227.1:p.Gly343=
ENST00000684520.1:c.1029C>T	ENSP00000506826.1:p.Gly343=
ENST00000684602.1:c.*695C>T	ENSP00000507996.1:n.*695C>T
ENST00000684667.1:c.1360C>T	ENSP00000507003.1:n.1360C>T
ENST00000268097.10:c.1029C>T MANE Select	ENSP00000268097.6:p.Gly343=
ENST00000268097.9:c.1029C>T	ENSP00000268097.5:p.Gly343=
ENST00000379915.4:c.413-1767C>T	ENSP00000478716.1:n.413-1767C>T
ENST00000563762.5:c.781C>T	ENSP00000456346.1:n.781C>T
ENST00000566304.5:c.1062C>T	ENSP00000455114.1:p.Gly354=
ENST00000566672.5:c.*439C>T	ENSP00000457037.1:n.*439C>T
ENST00000567027.5:c.901C>T
ENST00000567159.5:c.1029C>T	ENSP00000456489.1:p.Gly343=
ENST00000567411.5:c.*550C>T	ENSP00000455545.1:n.*550C>T
ENST00000568777.5:n.6433C>T
ENST00000569410.5:c.1029C>T	ENSP00000457125.1:p.Gly343=
NM_000520.4:c.1029C>T	NP_000511.2:p.Gly343=
NM_000520.5:c.1029C>T	NP_000511.2:p.Gly343=
NM_001318825.1:c.1062C>T	NP_001305754.1:p.Gly354=
NR_134869.1:n.1530C>T
NM_000520.6:c.1029C>T MANE Select	NP_000511.2:p.Gly343=
NM_001318825.2:c.1062C>T	NP_001305754.1:p.Gly354=
NR_134869.2:n.1071C>T
NR_134869.3:n.1071C>T