Canonical Allele Identifier: CA393063166

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72642933T>C (hg19) ; chr15:g.72350592T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72350592T>C , CM000677.2:g.72350592T>C	GRCh38
NC_000015.9:g.72642933T>C , CM000677.1:g.72642933T>C	GRCh37
NC_000015.8:g.70429987T>C	NCBI36
NG_009017.1:g.30588A>G
NG_009017.2:g.30588A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.3077A>G
ENST00000567027.6:c.731A>G	ENSP00000457521.2:p.Glu244Gly
ENST00000682061.1:c.*393A>G	ENSP00000508316.1:n.*393A>G
ENST00000682177.1:c.774A>G	ENSP00000507409.1:p.Ter258Trp
ENST00000682461.1:c.837A>G	ENSP00000507308.1:n.837A>G
ENST00000682653.1:n.762A>G
ENST00000682657.1:c.*141A>G	ENSP00000507753.1:n.*141A>G
ENST00000682721.1:c.*534A>G	ENSP00000507535.1:n.*534A>G
ENST00000682843.1:c.*629A>G	ENSP00000508173.1:n.*629A>G
ENST00000683003.1:c.*141A>G	ENSP00000507576.1:n.*141A>G
ENST00000683133.1:c.915A>G	ENSP00000508108.1:n.915A>G
ENST00000683228.1:n.762A>G
ENST00000683243.1:c.*141A>G	ENSP00000507042.1:n.*141A>G
ENST00000683463.1:c.731A>G	ENSP00000507986.1:p.Glu244Gly
ENST00000683548.1:n.762A>G
ENST00000683579.1:c.*629A>G	ENSP00000506867.1:n.*629A>G
ENST00000683587.1:n.762A>G
ENST00000683681.1:c.731A>G	ENSP00000508110.1:p.Glu244Gly
ENST00000683735.1:c.*629A>G	ENSP00000508336.1:n.*629A>G
ENST00000683742.1:n.562A>G
ENST00000683853.1:c.731A>G	ENSP00000506834.1:p.Glu244Gly
ENST00000683860.1:c.731A>G	ENSP00000507179.1:p.Glu244Gly
ENST00000683884.1:c.731A>G	ENSP00000507004.1:p.Glu244Gly
ENST00000684041.1:c.731A>G	ENSP00000508382.1:p.Glu244Gly
ENST00000684125.1:c.731A>G	ENSP00000507320.1:p.Glu244Gly
ENST00000684203.1:n.2569A>G
ENST00000684231.1:c.*141A>G	ENSP00000507748.1:n.*141A>G
ENST00000684263.1:c.731A>G	ENSP00000508369.1:p.Glu244Gly
ENST00000684305.1:c.1179A>G	ENSP00000506819.1:n.1179A>G
ENST00000684415.1:c.731A>G	ENSP00000507227.1:p.Glu244Gly
ENST00000684520.1:c.731A>G	ENSP00000506826.1:p.Glu244Gly
ENST00000684602.1:c.*397A>G	ENSP00000507996.1:n.*397A>G
ENST00000684667.1:c.1062A>G	ENSP00000507003.1:n.1062A>G
ENST00000268097.10:c.731A>G MANE Select	ENSP00000268097.6:p.Glu244Gly
ENST00000268097.9:c.731A>G	ENSP00000268097.5:p.Glu244Gly
ENST00000379915.4:c.413-4267A>G	ENSP00000478716.1:n.413-4267A>G
ENST00000563762.5:c.664A>G	ENSP00000456346.1:n.664A>G
ENST00000566304.5:c.764A>G	ENSP00000455114.1:p.Glu255Gly
ENST00000566672.5:c.*141A>G	ENSP00000457037.1:n.*141A>G
ENST00000567027.5:c.603A>G
ENST00000567159.5:c.731A>G	ENSP00000456489.1:p.Glu244Gly
ENST00000567411.5:c.*252A>G	ENSP00000455545.1:n.*252A>G
ENST00000568777.5:n.6135A>G
ENST00000569410.5:c.731A>G	ENSP00000457125.1:p.Glu244Gly
ENST00000569509.5:n.578A>G
NM_000520.4:c.731A>G	NP_000511.2:p.Glu244Gly
NM_000520.5:c.731A>G	NP_000511.2:p.Glu244Gly
NM_001318825.1:c.764A>G	NP_001305754.1:p.Glu255Gly
NR_134869.1:n.1232A>G
NM_000520.6:c.731A>G MANE Select	NP_000511.2:p.Glu244Gly
NM_001318825.2:c.764A>G	NP_001305754.1:p.Glu255Gly
NR_134869.2:n.773A>G
NR_134869.3:n.773A>G