Canonical Allele Identifier: CA393062465

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72641509C>A (hg19) ; chr15:g.72349168C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72349168C>A , CM000677.2:g.72349168C>A	GRCh38
NC_000015.9:g.72641509C>A , CM000677.1:g.72641509C>A	GRCh37
NC_000015.8:g.70428563C>A	NCBI36
NG_009017.1:g.32012G>T
NG_009017.2:g.32012G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3243G>T
ENST00000567027.6:c.897G>T	ENSP00000457521.2:p.Glu299Asp
ENST00000682061.1:c.*559G>T	ENSP00000508316.1:n.*559G>T
ENST00000682177.1:c.940G>T	ENSP00000507409.1:n.940G>T
ENST00000682461.1:c.1003G>T	ENSP00000507308.1:n.1003G>T
ENST00000682653.1:n.928G>T
ENST00000682657.1:c.*307G>T	ENSP00000507753.1:n.*307G>T
ENST00000682721.1:c.*700G>T	ENSP00000507535.1:n.*700G>T
ENST00000682843.1:c.*795G>T	ENSP00000508173.1:n.*795G>T
ENST00000683003.1:c.*307G>T	ENSP00000507576.1:n.*307G>T
ENST00000683133.1:c.1081G>T	ENSP00000508108.1:n.1081G>T
ENST00000683228.1:n.928G>T
ENST00000683243.1:c.*307G>T	ENSP00000507042.1:n.*307G>T
ENST00000683463.1:c.897G>T	ENSP00000507986.1:p.Glu299Asp
ENST00000683548.1:n.928G>T
ENST00000683579.1:c.*795G>T	ENSP00000506867.1:n.*795G>T
ENST00000683587.1:n.928G>T
ENST00000683681.1:c.897G>T	ENSP00000508110.1:p.Glu299Asp
ENST00000683735.1:c.*795G>T	ENSP00000508336.1:n.*795G>T
ENST00000683742.1:n.728G>T
ENST00000683853.1:c.897G>T	ENSP00000506834.1:p.Glu299Asp
ENST00000683860.1:c.897G>T	ENSP00000507179.1:p.Glu299Asp
ENST00000683884.1:c.897G>T	ENSP00000507004.1:p.Glu299Asp
ENST00000684041.1:c.897G>T	ENSP00000508382.1:p.Glu299Asp
ENST00000684125.1:c.897G>T	ENSP00000507320.1:p.Glu299Asp
ENST00000684203.1:n.2735G>T
ENST00000684231.1:c.*307G>T	ENSP00000507748.1:n.*307G>T
ENST00000684263.1:c.897G>T	ENSP00000508369.1:p.Glu299Asp
ENST00000684305.1:c.1345G>T	ENSP00000506819.1:n.1345G>T
ENST00000684415.1:c.897G>T	ENSP00000507227.1:p.Glu299Asp
ENST00000684520.1:c.897G>T	ENSP00000506826.1:p.Glu299Asp
ENST00000684602.1:c.*563G>T	ENSP00000507996.1:n.*563G>T
ENST00000684667.1:c.1228G>T	ENSP00000507003.1:n.1228G>T
ENST00000268097.10:c.897G>T MANE Select	ENSP00000268097.6:p.Glu299Asp
ENST00000268097.9:c.897G>T	ENSP00000268097.5:p.Glu299Asp
ENST00000379915.4:c.413-2843G>T	ENSP00000478716.1:n.413-2843G>T
ENST00000563762.5:c.739-1034G>T	ENSP00000456346.1:n.739-1034G>T
ENST00000566304.5:c.930G>T	ENSP00000455114.1:p.Glu310Asp
ENST00000566672.5:c.*307G>T	ENSP00000457037.1:n.*307G>T
ENST00000567027.5:c.769G>T
ENST00000567159.5:c.897G>T	ENSP00000456489.1:p.Glu299Asp
ENST00000567411.5:c.*418G>T	ENSP00000455545.1:n.*418G>T
ENST00000568777.5:n.6301G>T
ENST00000569410.5:c.897G>T	ENSP00000457125.1:p.Glu299Asp
NM_000520.4:c.897G>T	NP_000511.2:p.Glu299Asp
NM_000520.5:c.897G>T	NP_000511.2:p.Glu299Asp
NM_001318825.1:c.930G>T	NP_001305754.1:p.Glu310Asp
NR_134869.1:n.1398G>T
NM_000520.6:c.897G>T MANE Select	NP_000511.2:p.Glu299Asp
NM_001318825.2:c.930G>T	NP_001305754.1:p.Glu310Asp
NR_134869.2:n.939G>T
NR_134869.3:n.939G>T