Canonical Allele Identifier: CA272611690

Gene: HEXA

Linked Data

• dbSNP Id: rs1054374
• MyVariant Identifiers: chr15:g.72641528C>A (hg19) ; chr15:g.72349187C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72349187C>A , CM000677.2:g.72349187C>A	GRCh38
NC_000015.9:g.72641528C>A , CM000677.1:g.72641528C>A	GRCh37
NC_000015.8:g.70428582C>A	NCBI36
NG_009017.1:g.31993G>T
NG_009017.2:g.31993G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3224G>T
ENST00000567027.6:c.878G>T	ENSP00000457521.2:p.Ser293Ile
ENST00000682061.1:c.*540G>T	ENSP00000508316.1:n.*540G>T
ENST00000682177.1:c.921G>T	ENSP00000507409.1:n.921G>T
ENST00000682461.1:c.984G>T	ENSP00000507308.1:n.984G>T
ENST00000682653.1:n.909G>T
ENST00000682657.1:c.*288G>T	ENSP00000507753.1:n.*288G>T
ENST00000682721.1:c.*681G>T	ENSP00000507535.1:n.*681G>T
ENST00000682843.1:c.*776G>T	ENSP00000508173.1:n.*776G>T
ENST00000683003.1:c.*288G>T	ENSP00000507576.1:n.*288G>T
ENST00000683133.1:c.1062G>T	ENSP00000508108.1:n.1062G>T
ENST00000683228.1:n.909G>T
ENST00000683243.1:c.*288G>T	ENSP00000507042.1:n.*288G>T
ENST00000683463.1:c.878G>T	ENSP00000507986.1:p.Ser293Ile
ENST00000683548.1:n.909G>T
ENST00000683579.1:c.*776G>T	ENSP00000506867.1:n.*776G>T
ENST00000683587.1:n.909G>T
ENST00000683681.1:c.878G>T	ENSP00000508110.1:p.Ser293Ile
ENST00000683735.1:c.*776G>T	ENSP00000508336.1:n.*776G>T
ENST00000683742.1:n.709G>T
ENST00000683853.1:c.878G>T	ENSP00000506834.1:p.Ser293Ile
ENST00000683860.1:c.878G>T	ENSP00000507179.1:p.Ser293Ile
ENST00000683884.1:c.878G>T	ENSP00000507004.1:p.Ser293Ile
ENST00000684041.1:c.878G>T	ENSP00000508382.1:p.Ser293Ile
ENST00000684125.1:c.878G>T	ENSP00000507320.1:p.Ser293Ile
ENST00000684203.1:n.2716G>T
ENST00000684231.1:c.*288G>T	ENSP00000507748.1:n.*288G>T
ENST00000684263.1:c.878G>T	ENSP00000508369.1:p.Ser293Ile
ENST00000684305.1:c.1326G>T	ENSP00000506819.1:n.1326G>T
ENST00000684415.1:c.878G>T	ENSP00000507227.1:p.Ser293Ile
ENST00000684520.1:c.878G>T	ENSP00000506826.1:p.Ser293Ile
ENST00000684602.1:c.*544G>T	ENSP00000507996.1:n.*544G>T
ENST00000684667.1:c.1209G>T	ENSP00000507003.1:n.1209G>T
ENST00000268097.10:c.878G>T MANE Select	ENSP00000268097.6:p.Ser293Ile
ENST00000268097.9:c.878G>T	ENSP00000268097.5:p.Ser293Ile
ENST00000379915.4:c.413-2862G>T	ENSP00000478716.1:n.413-2862G>T
ENST00000563762.5:c.739-1053G>T	ENSP00000456346.1:n.739-1053G>T
ENST00000566304.5:c.911G>T	ENSP00000455114.1:p.Ser304Ile
ENST00000566672.5:c.*288G>T	ENSP00000457037.1:n.*288G>T
ENST00000567027.5:c.750G>T
ENST00000567159.5:c.878G>T	ENSP00000456489.1:p.Ser293Ile
ENST00000567411.5:c.*399G>T	ENSP00000455545.1:n.*399G>T
ENST00000568777.5:n.6282G>T
ENST00000569410.5:c.878G>T	ENSP00000457125.1:p.Ser293Ile
NM_000520.4:c.878G>T	NP_000511.2:p.Ser293Ile
NM_000520.5:c.878G>T	NP_000511.2:p.Ser293Ile
NM_001318825.1:c.911G>T	NP_001305754.1:p.Ser304Ile
NR_134869.1:n.1379G>T
NM_000520.6:c.878G>T MANE Select	NP_000511.2:p.Ser293Ile
NM_001318825.2:c.911G>T	NP_001305754.1:p.Ser304Ile
NR_134869.2:n.920G>T
NR_134869.3:n.920G>T