Canonical Allele Identifier: CA393066746

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72647944T>A (hg19) ; chr15:g.72355603T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72355603T>A , CM000677.2:g.72355603T>A	GRCh38
NC_000015.9:g.72647944T>A , CM000677.1:g.72647944T>A	GRCh37
NC_000015.8:g.70434998T>A	NCBI36
NG_009017.1:g.25577A>T
NG_009017.2:g.25577A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.381A>T
ENST00000567027.6:c.368A>T	ENSP00000457521.2:p.Asp123Val
ENST00000568260.2:c.435A>T	ENSP00000458128.2:n.435A>T
ENST00000682061.1:c.*30A>T	ENSP00000508316.1:n.*30A>T
ENST00000682177.1:c.368A>T	ENSP00000507409.1:p.Asp123Val
ENST00000682461.1:c.632A>T	ENSP00000507308.1:n.632A>T
ENST00000682653.1:n.399A>T
ENST00000682657.1:c.254-4369A>T	ENSP00000507753.1:n.254-4369A>T
ENST00000682721.1:c.*171A>T	ENSP00000507535.1:n.*171A>T
ENST00000682843.1:c.*266A>T	ENSP00000508173.1:n.*266A>T
ENST00000683003.1:c.368A>T	ENSP00000507576.1:p.Asp123Val
ENST00000683133.1:c.552A>T	ENSP00000508108.1:n.552A>T
ENST00000683228.1:n.399A>T
ENST00000683243.1:c.368A>T	ENSP00000507042.1:p.Asp123Val
ENST00000683463.1:c.368A>T	ENSP00000507986.1:p.Asp123Val
ENST00000683548.1:n.399A>T
ENST00000683579.1:c.*266A>T	ENSP00000506867.1:n.*266A>T
ENST00000683587.1:n.399A>T
ENST00000683681.1:c.368A>T	ENSP00000508110.1:p.Asp123Val
ENST00000683735.1:c.*266A>T	ENSP00000508336.1:n.*266A>T
ENST00000683853.1:c.368A>T	ENSP00000506834.1:p.Asp123Val
ENST00000683860.1:c.368A>T	ENSP00000507179.1:p.Asp123Val
ENST00000683884.1:c.368A>T	ENSP00000507004.1:p.Asp123Val
ENST00000684041.1:c.368A>T	ENSP00000508382.1:p.Asp123Val
ENST00000684125.1:c.368A>T	ENSP00000507320.1:p.Asp123Val
ENST00000684203.1:n.385A>T
ENST00000684231.1:c.368A>T	ENSP00000507748.1:p.Asp123Val
ENST00000684263.1:c.368A>T	ENSP00000508369.1:p.Asp123Val
ENST00000684305.1:c.816A>T	ENSP00000506819.1:n.816A>T
ENST00000684415.1:c.368A>T	ENSP00000507227.1:p.Asp123Val
ENST00000684520.1:c.368A>T	ENSP00000506826.1:p.Asp123Val
ENST00000684602.1:c.*192A>T	ENSP00000507996.1:n.*192A>T
ENST00000684667.1:c.699A>T	ENSP00000507003.1:n.699A>T
ENST00000268097.10:c.368A>T MANE Select	ENSP00000268097.6:p.Asp123Val
ENST00000268097.9:c.368A>T	ENSP00000268097.5:p.Asp123Val
ENST00000379915.4:c.368A>T	ENSP00000478716.1:p.Asp123Val
ENST00000563762.5:c.459A>T	ENSP00000456346.1:n.459A>T
ENST00000563908.1:n.365A>T
ENST00000566304.5:c.401A>T	ENSP00000455114.1:p.Asp134Val
ENST00000566672.5:c.368A>T	ENSP00000457037.1:p.Asp123Val
ENST00000567027.5:c.240A>T
ENST00000567159.5:c.368A>T	ENSP00000456489.1:p.Asp123Val
ENST00000567411.5:c.368A>T	ENSP00000455545.1:p.Asp123Val
ENST00000568260.1:c.416A>T
ENST00000568777.5:n.3951A>T
ENST00000569410.5:c.368A>T	ENSP00000457125.1:p.Asp123Val
ENST00000569509.5:n.373A>T
NM_000520.4:c.368A>T	NP_000511.2:p.Asp123Val
NM_000520.5:c.368A>T	NP_000511.2:p.Asp123Val
NM_001318825.1:c.401A>T	NP_001305754.1:p.Asp134Val
NR_134869.1:n.869A>T
NM_000520.6:c.368A>T MANE Select	NP_000511.2:p.Asp123Val
NM_001318825.2:c.401A>T	NP_001305754.1:p.Asp134Val
NR_134869.2:n.410A>T
NR_134869.3:n.410A>T