Canonical Allele Identifier: CA393066863

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72647964A>C (hg19) ; chr15:g.72355623A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72355623A>C , CM000677.2:g.72355623A>C	GRCh38
NC_000015.9:g.72647964A>C , CM000677.1:g.72647964A>C	GRCh37
NC_000015.8:g.70435018A>C	NCBI36
NG_009017.1:g.25557T>G
NG_009017.2:g.25557T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.361T>G
ENST00000567027.6:c.348T>G	ENSP00000457521.2:p.Tyr116Ter
ENST00000568260.2:c.415T>G	ENSP00000458128.2:n.415T>G
ENST00000682061.1:c.*10T>G	ENSP00000508316.1:n.*10T>G
ENST00000682177.1:c.348T>G	ENSP00000507409.1:p.Tyr116Ter
ENST00000682461.1:c.612T>G	ENSP00000507308.1:n.612T>G
ENST00000682653.1:n.379T>G
ENST00000682657.1:c.254-4389T>G	ENSP00000507753.1:n.254-4389T>G
ENST00000682721.1:c.*151T>G	ENSP00000507535.1:n.*151T>G
ENST00000682843.1:c.*246T>G	ENSP00000508173.1:n.*246T>G
ENST00000683003.1:c.348T>G	ENSP00000507576.1:p.Tyr116Ter
ENST00000683133.1:c.532T>G	ENSP00000508108.1:n.532T>G
ENST00000683228.1:n.379T>G
ENST00000683243.1:c.348T>G	ENSP00000507042.1:p.Tyr116Ter
ENST00000683463.1:c.348T>G	ENSP00000507986.1:p.Tyr116Ter
ENST00000683548.1:n.379T>G
ENST00000683579.1:c.*246T>G	ENSP00000506867.1:n.*246T>G
ENST00000683587.1:n.379T>G
ENST00000683681.1:c.348T>G	ENSP00000508110.1:p.Tyr116Ter
ENST00000683735.1:c.*246T>G	ENSP00000508336.1:n.*246T>G
ENST00000683853.1:c.348T>G	ENSP00000506834.1:p.Tyr116Ter
ENST00000683860.1:c.348T>G	ENSP00000507179.1:p.Tyr116Ter
ENST00000683884.1:c.348T>G	ENSP00000507004.1:p.Tyr116Ter
ENST00000684041.1:c.348T>G	ENSP00000508382.1:p.Tyr116Ter
ENST00000684125.1:c.348T>G	ENSP00000507320.1:p.Tyr116Ter
ENST00000684203.1:n.365T>G
ENST00000684231.1:c.348T>G	ENSP00000507748.1:p.Tyr116Ter
ENST00000684263.1:c.348T>G	ENSP00000508369.1:p.Tyr116Ter
ENST00000684305.1:c.796T>G	ENSP00000506819.1:n.796T>G
ENST00000684415.1:c.348T>G	ENSP00000507227.1:p.Tyr116Ter
ENST00000684520.1:c.348T>G	ENSP00000506826.1:p.Tyr116Ter
ENST00000684602.1:c.*172T>G	ENSP00000507996.1:n.*172T>G
ENST00000684667.1:c.679T>G	ENSP00000507003.1:n.679T>G
ENST00000268097.10:c.348T>G MANE Select	ENSP00000268097.6:p.Tyr116Ter
ENST00000268097.9:c.348T>G	ENSP00000268097.5:p.Tyr116Ter
ENST00000379915.4:c.348T>G	ENSP00000478716.1:p.Tyr116Ter
ENST00000563762.5:c.439T>G	ENSP00000456346.1:n.439T>G
ENST00000563908.1:n.345T>G
ENST00000566304.5:c.381T>G	ENSP00000455114.1:p.Tyr127Ter
ENST00000566672.5:c.348T>G	ENSP00000457037.1:p.Tyr116Ter
ENST00000567027.5:c.220T>G
ENST00000567159.5:c.348T>G	ENSP00000456489.1:p.Tyr116Ter
ENST00000567411.5:c.348T>G	ENSP00000455545.1:p.Tyr116Ter
ENST00000568260.1:c.396T>G
ENST00000568777.5:n.3931T>G
ENST00000569410.5:c.348T>G	ENSP00000457125.1:p.Tyr116Ter
ENST00000569509.5:n.353T>G
NM_000520.4:c.348T>G	NP_000511.2:p.Tyr116Ter
NM_000520.5:c.348T>G	NP_000511.2:p.Tyr116Ter
NM_001318825.1:c.381T>G	NP_001305754.1:p.Tyr127Ter
NR_134869.1:n.849T>G
NM_000520.6:c.348T>G MANE Select	NP_000511.2:p.Tyr116Ter
NM_001318825.2:c.381T>G	NP_001305754.1:p.Tyr127Ter
NR_134869.2:n.390T>G
NR_134869.3:n.390T>G