Canonical Allele Identifier: CA2841192197

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72353210T>C , CM000677.2:g.72353210T>C	GRCh38
NC_000015.9:g.72645551T>C , CM000677.1:g.72645551T>C	GRCh37
NC_000015.8:g.70432605T>C	NCBI36
NG_009017.1:g.27970A>G
NG_009017.2:g.27970A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.2774A>G
ENST00000567027.6:c.460-32A>G	ENSP00000457521.2:n.460-32A>G
ENST00000568260.2:c.480-32A>G	ENSP00000458128.2:n.480-32A>G
ENST00000682061.1:c.*122-32A>G	ENSP00000508316.1:n.*122-32A>G
ENST00000682177.1:c.460-32A>G	ENSP00000507409.1:n.460-32A>G
ENST00000682461.1:c.677-1976A>G	ENSP00000507308.1:n.677-1976A>G
ENST00000682653.1:n.491-32A>G
ENST00000682657.1:c.254-1976A>G	ENSP00000507753.1:n.254-1976A>G
ENST00000682721.1:c.*263-32A>G	ENSP00000507535.1:n.*263-32A>G
ENST00000682843.1:c.*358-32A>G	ENSP00000508173.1:n.*358-32A>G
ENST00000683003.1:c.413-1976A>G	ENSP00000507576.1:n.413-1976A>G
ENST00000683133.1:c.644-32A>G	ENSP00000508108.1:n.644-32A>G
ENST00000683228.1:n.491-32A>G
ENST00000683243.1:c.413-1976A>G	ENSP00000507042.1:n.413-1976A>G
ENST00000683463.1:c.460-32A>G	ENSP00000507986.1:n.460-32A>G
ENST00000683548.1:n.491-32A>G
ENST00000683579.1:c.*358-32A>G	ENSP00000506867.1:n.*358-32A>G
ENST00000683587.1:n.491-32A>G
ENST00000683681.1:c.460-32A>G	ENSP00000508110.1:n.460-32A>G
ENST00000683735.1:c.*358-32A>G	ENSP00000508336.1:n.*358-32A>G
ENST00000683853.1:c.460-32A>G	ENSP00000506834.1:n.460-32A>G
ENST00000683860.1:c.460-32A>G	ENSP00000507179.1:n.460-32A>G
ENST00000683884.1:c.460-32A>G	ENSP00000507004.1:n.460-32A>G
ENST00000684041.1:c.460-32A>G	ENSP00000508382.1:n.460-32A>G
ENST00000684125.1:c.460-32A>G	ENSP00000507320.1:n.460-32A>G
ENST00000684203.1:n.2298-32A>G
ENST00000684231.1:c.413-1976A>G	ENSP00000507748.1:n.413-1976A>G
ENST00000684263.1:c.460-32A>G	ENSP00000508369.1:n.460-32A>G
ENST00000684305.1:c.908-32A>G	ENSP00000506819.1:n.908-32A>G
ENST00000684415.1:c.460-32A>G	ENSP00000507227.1:n.460-32A>G
ENST00000684520.1:c.460-32A>G	ENSP00000506826.1:n.460-32A>G
ENST00000684602.1:c.*237-1976A>G	ENSP00000507996.1:n.*237-1976A>G
ENST00000684667.1:c.791-32A>G	ENSP00000507003.1:n.791-32A>G
ENST00000268097.10:c.460-32A>G MANE Select	ENSP00000268097.6:n.460-32A>G
ENST00000268097.9:c.460-32A>G	ENSP00000268097.5:n.460-32A>G
ENST00000379915.4:c.412+2349A>G	ENSP00000478716.1:n.412+2349A>G
ENST00000563762.5:c.504-1976A>G	ENSP00000456346.1:n.504-1976A>G
ENST00000566304.5:c.493-32A>G	ENSP00000455114.1:n.493-32A>G
ENST00000566672.5:c.413-1976A>G	ENSP00000457037.1:n.413-1976A>G
ENST00000567027.5:c.332-32A>G
ENST00000567159.5:c.460-32A>G	ENSP00000456489.1:n.460-32A>G
ENST00000567411.5:c.413-32A>G	ENSP00000455545.1:n.413-32A>G
ENST00000568260.1:c.461-32A>G
ENST00000568777.5:n.5864-32A>G
ENST00000569410.5:c.460-32A>G	ENSP00000457125.1:n.460-32A>G
ENST00000569509.5:n.418-1976A>G
NM_000520.4:c.460-32A>G	NP_000511.2:n.460-32A>G
NM_000520.5:c.460-32A>G	NP_000511.2:n.460-32A>G
NM_001318825.1:c.493-32A>G	NP_001305754.1:n.493-32A>G
NR_134869.1:n.961-32A>G
NM_000520.6:c.460-32A>G MANE Select	NP_000511.2:n.460-32A>G
NM_001318825.2:c.493-32A>G	NP_001305754.1:n.493-32A>G
NR_134869.2:n.502-32A>G
NR_134869.3:n.502-32A>G