Canonical Allele Identifier: CA491119693

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72641587T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72349246T>C , CM000677.2:g.72349246T>C	GRCh38
NC_000015.9:g.72641587T>C , CM000677.1:g.72641587T>C	GRCh37
NC_000015.8:g.70428641T>C	NCBI36
NG_009017.1:g.31934A>G
NG_009017.2:g.31934A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3165A>G
ENST00000567027.6:c.819A>G	ENSP00000457521.2:p.Leu273=
ENST00000682061.1:c.*481A>G	ENSP00000508316.1:n.*481A>G
ENST00000682177.1:c.862A>G	ENSP00000507409.1:n.862A>G
ENST00000682461.1:c.925A>G	ENSP00000507308.1:n.925A>G
ENST00000682653.1:n.850A>G
ENST00000682657.1:c.*229A>G	ENSP00000507753.1:n.*229A>G
ENST00000682721.1:c.*622A>G	ENSP00000507535.1:n.*622A>G
ENST00000682843.1:c.*717A>G	ENSP00000508173.1:n.*717A>G
ENST00000683003.1:c.*229A>G	ENSP00000507576.1:n.*229A>G
ENST00000683133.1:c.1003A>G	ENSP00000508108.1:n.1003A>G
ENST00000683228.1:n.850A>G
ENST00000683243.1:c.*229A>G	ENSP00000507042.1:n.*229A>G
ENST00000683463.1:c.819A>G	ENSP00000507986.1:p.Leu273=
ENST00000683548.1:n.850A>G
ENST00000683579.1:c.*717A>G	ENSP00000506867.1:n.*717A>G
ENST00000683587.1:n.850A>G
ENST00000683681.1:c.819A>G	ENSP00000508110.1:p.Leu273=
ENST00000683735.1:c.*717A>G	ENSP00000508336.1:n.*717A>G
ENST00000683742.1:n.650A>G
ENST00000683853.1:c.819A>G	ENSP00000506834.1:p.Leu273=
ENST00000683860.1:c.819A>G	ENSP00000507179.1:p.Leu273=
ENST00000683884.1:c.819A>G	ENSP00000507004.1:p.Leu273=
ENST00000684041.1:c.819A>G	ENSP00000508382.1:p.Leu273=
ENST00000684125.1:c.819A>G	ENSP00000507320.1:p.Leu273=
ENST00000684203.1:n.2657A>G
ENST00000684231.1:c.*229A>G	ENSP00000507748.1:n.*229A>G
ENST00000684263.1:c.819A>G	ENSP00000508369.1:p.Leu273=
ENST00000684305.1:c.1267A>G	ENSP00000506819.1:n.1267A>G
ENST00000684415.1:c.819A>G	ENSP00000507227.1:p.Leu273=
ENST00000684520.1:c.819A>G	ENSP00000506826.1:p.Leu273=
ENST00000684602.1:c.*485A>G	ENSP00000507996.1:n.*485A>G
ENST00000684667.1:c.1150A>G	ENSP00000507003.1:n.1150A>G
ENST00000268097.10:c.819A>G MANE Select	ENSP00000268097.6:p.Leu273=
ENST00000268097.9:c.819A>G	ENSP00000268097.5:p.Leu273=
ENST00000379915.4:c.413-2921A>G	ENSP00000478716.1:n.413-2921A>G
ENST00000563762.5:c.739-1112A>G	ENSP00000456346.1:n.739-1112A>G
ENST00000566304.5:c.852A>G	ENSP00000455114.1:p.Leu284=
ENST00000566672.5:c.*229A>G	ENSP00000457037.1:n.*229A>G
ENST00000567027.5:c.691A>G
ENST00000567159.5:c.819A>G	ENSP00000456489.1:p.Leu273=
ENST00000567411.5:c.*340A>G	ENSP00000455545.1:n.*340A>G
ENST00000568777.5:n.6223A>G
ENST00000569410.5:c.819A>G	ENSP00000457125.1:p.Leu273=
NM_000520.4:c.819A>G	NP_000511.2:p.Leu273=
NM_000520.5:c.819A>G	NP_000511.2:p.Leu273=
NM_001318825.1:c.852A>G	NP_001305754.1:p.Leu284=
NR_134869.1:n.1320A>G
NM_000520.6:c.819A>G MANE Select	NP_000511.2:p.Leu273=
NM_001318825.2:c.852A>G	NP_001305754.1:p.Leu284=
NR_134869.2:n.861A>G
NR_134869.3:n.861A>G