Canonical Allele Identifier: CA393061904

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72640426C>A (hg19) ; chr15:g.72348085C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72348085C>A , CM000677.2:g.72348085C>A	GRCh38
NC_000015.9:g.72640426C>A , CM000677.1:g.72640426C>A	GRCh37
NC_000015.8:g.70427480C>A	NCBI36
NG_009017.1:g.33095G>T
NG_009017.2:g.33095G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.3382G>T
ENST00000567027.6:c.1036G>T	ENSP00000457521.2:p.Glu346Ter
ENST00000682061.1:c.*698G>T	ENSP00000508316.1:n.*698G>T
ENST00000682177.1:c.1079G>T	ENSP00000507409.1:n.1079G>T
ENST00000682461.1:c.1142G>T	ENSP00000507308.1:n.1142G>T
ENST00000682653.1:n.1067G>T
ENST00000682657.1:c.*446G>T	ENSP00000507753.1:n.*446G>T
ENST00000682721.1:c.*839G>T	ENSP00000507535.1:n.*839G>T
ENST00000682843.1:c.*934G>T	ENSP00000508173.1:n.*934G>T
ENST00000683003.1:c.*446G>T	ENSP00000507576.1:n.*446G>T
ENST00000683133.1:c.1220G>T	ENSP00000508108.1:n.1220G>T
ENST00000683228.1:n.1067G>T
ENST00000683243.1:c.*446G>T	ENSP00000507042.1:n.*446G>T
ENST00000683463.1:c.1036G>T	ENSP00000507986.1:p.Glu346Ter
ENST00000683548.1:n.1067G>T
ENST00000683579.1:c.*934G>T	ENSP00000506867.1:n.*934G>T
ENST00000683587.1:n.1067G>T
ENST00000683681.1:c.1036G>T	ENSP00000508110.1:p.Glu346Ter
ENST00000683735.1:c.*934G>T	ENSP00000508336.1:n.*934G>T
ENST00000683742.1:n.867G>T
ENST00000683853.1:c.1036G>T	ENSP00000506834.1:p.Glu346Ter
ENST00000683860.1:c.1036G>T	ENSP00000507179.1:p.Glu346Ter
ENST00000683884.1:c.1036G>T	ENSP00000507004.1:p.Glu346Ter
ENST00000684041.1:c.1036G>T	ENSP00000508382.1:p.Glu346Ter
ENST00000684125.1:c.1036G>T	ENSP00000507320.1:p.Glu346Ter
ENST00000684203.1:n.2874G>T
ENST00000684231.1:c.*446G>T	ENSP00000507748.1:n.*446G>T
ENST00000684263.1:c.1036G>T	ENSP00000508369.1:p.Glu346Ter
ENST00000684305.1:c.1484G>T	ENSP00000506819.1:n.1484G>T
ENST00000684415.1:c.1036G>T	ENSP00000507227.1:p.Glu346Ter
ENST00000684520.1:c.1036G>T	ENSP00000506826.1:p.Glu346Ter
ENST00000684602.1:c.*702G>T	ENSP00000507996.1:n.*702G>T
ENST00000684667.1:c.1367G>T	ENSP00000507003.1:n.1367G>T
ENST00000268097.10:c.1036G>T MANE Select	ENSP00000268097.6:p.Glu346Ter
ENST00000268097.9:c.1036G>T	ENSP00000268097.5:p.Glu346Ter
ENST00000379915.4:c.413-1760G>T	ENSP00000478716.1:n.413-1760G>T
ENST00000563762.5:c.788G>T	ENSP00000456346.1:n.788G>T
ENST00000566304.5:c.1069G>T	ENSP00000455114.1:p.Glu357Ter
ENST00000566672.5:c.*446G>T	ENSP00000457037.1:n.*446G>T
ENST00000567027.5:c.908G>T
ENST00000567159.5:c.1036G>T	ENSP00000456489.1:p.Glu346Ter
ENST00000567411.5:c.*557G>T	ENSP00000455545.1:n.*557G>T
ENST00000568777.5:n.6440G>T
ENST00000569410.5:c.1036G>T	ENSP00000457125.1:p.Glu346Ter
NM_000520.4:c.1036G>T	NP_000511.2:p.Glu346Ter
NM_000520.5:c.1036G>T	NP_000511.2:p.Glu346Ter
NM_001318825.1:c.1069G>T	NP_001305754.1:p.Glu357Ter
NR_134869.1:n.1537G>T
NM_000520.6:c.1036G>T MANE Select	NP_000511.2:p.Glu346Ter
NM_001318825.2:c.1069G>T	NP_001305754.1:p.Glu357Ter
NR_134869.2:n.1078G>T
NR_134869.3:n.1078G>T