Canonical Allele Identifier: CA491125686

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72643561G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72351220G>A , CM000677.2:g.72351220G>A	GRCh38
NC_000015.9:g.72643561G>A , CM000677.1:g.72643561G>A	GRCh37
NC_000015.8:g.70430615G>A	NCBI36
NG_009017.1:g.29960C>T
NG_009017.2:g.29960C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.2931C>T
ENST00000567027.6:c.585C>T	ENSP00000457521.2:p.Tyr195=
ENST00000568260.2:c.605C>T	ENSP00000458128.2:n.605C>T
ENST00000682061.1:c.*247C>T	ENSP00000508316.1:n.*247C>T
ENST00000682177.1:c.585C>T	ENSP00000507409.1:p.Tyr195=
ENST00000682461.1:c.691C>T	ENSP00000507308.1:n.691C>T
ENST00000682653.1:n.616C>T
ENST00000682657.1:c.268C>T	ENSP00000507753.1:p.Gln90Ter
ENST00000682721.1:c.*388C>T	ENSP00000507535.1:n.*388C>T
ENST00000682843.1:c.*483C>T	ENSP00000508173.1:n.*483C>T
ENST00000683003.1:c.427C>T	ENSP00000507576.1:p.Gln143Ter
ENST00000683133.1:c.769C>T	ENSP00000508108.1:n.769C>T
ENST00000683228.1:n.616C>T
ENST00000683243.1:c.427C>T	ENSP00000507042.1:p.Gln143Ter
ENST00000683463.1:c.585C>T	ENSP00000507986.1:p.Tyr195=
ENST00000683548.1:n.616C>T
ENST00000683579.1:c.*483C>T	ENSP00000506867.1:n.*483C>T
ENST00000683587.1:n.616C>T
ENST00000683681.1:c.585C>T	ENSP00000508110.1:p.Tyr195=
ENST00000683735.1:c.*483C>T	ENSP00000508336.1:n.*483C>T
ENST00000683742.1:n.416C>T
ENST00000683853.1:c.585C>T	ENSP00000506834.1:p.Tyr195=
ENST00000683860.1:c.585C>T	ENSP00000507179.1:p.Tyr195=
ENST00000683884.1:c.585C>T	ENSP00000507004.1:p.Tyr195=
ENST00000684041.1:c.585C>T	ENSP00000508382.1:p.Tyr195=
ENST00000684125.1:c.585C>T	ENSP00000507320.1:p.Tyr195=
ENST00000684203.1:n.2423C>T
ENST00000684231.1:c.427C>T	ENSP00000507748.1:p.Gln143Ter
ENST00000684263.1:c.585C>T	ENSP00000508369.1:p.Tyr195=
ENST00000684305.1:c.1033C>T	ENSP00000506819.1:n.1033C>T
ENST00000684415.1:c.585C>T	ENSP00000507227.1:p.Tyr195=
ENST00000684520.1:c.585C>T	ENSP00000506826.1:p.Tyr195=
ENST00000684602.1:c.*251C>T	ENSP00000507996.1:n.*251C>T
ENST00000684667.1:c.916C>T	ENSP00000507003.1:n.916C>T
ENST00000268097.10:c.585C>T MANE Select	ENSP00000268097.6:p.Tyr195=
ENST00000268097.9:c.585C>T	ENSP00000268097.5:p.Tyr195=
ENST00000379915.4:c.412+4339C>T	ENSP00000478716.1:n.412+4339C>T
ENST00000563762.5:c.518C>T	ENSP00000456346.1:n.518C>T
ENST00000566304.5:c.618C>T	ENSP00000455114.1:p.Tyr206=
ENST00000566672.5:c.427C>T	ENSP00000457037.1:p.Gln143Ter
ENST00000567027.5:c.457C>T
ENST00000567159.5:c.585C>T	ENSP00000456489.1:p.Tyr195=
ENST00000567411.5:c.*106C>T	ENSP00000455545.1:n.*106C>T
ENST00000568260.1:c.586C>T
ENST00000568777.5:n.5989C>T
ENST00000569410.5:c.585C>T	ENSP00000457125.1:p.Tyr195=
ENST00000569509.5:n.432C>T
NM_000520.4:c.585C>T	NP_000511.2:p.Tyr195=
NM_000520.5:c.585C>T	NP_000511.2:p.Tyr195=
NM_001318825.1:c.618C>T	NP_001305754.1:p.Tyr206=
NR_134869.1:n.1086C>T
NM_000520.6:c.585C>T MANE Select	NP_000511.2:p.Tyr195=
NM_001318825.2:c.618C>T	NP_001305754.1:p.Tyr206=
NR_134869.2:n.627C>T
NR_134869.3:n.627C>T