Canonical Allele Identifier: CA393059292

Gene: HEXA

Linked Data

• ClinVar Variation Id: 555211
• ClinVar RCV Id: RCV000670986
• dbSNP Id: rs1229811721
• gnomAD v4: 15-72346295-C-T
• MyVariant Identifiers: chr15:g.72638636C>T (hg19) ; chr15:g.72346295C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346295C>T , CM000677.2:g.72346295C>T	GRCh38
NC_000015.9:g.72638636C>T , CM000677.1:g.72638636C>T	GRCh37
NC_000015.8:g.70425690C>T	NCBI36
NG_009017.1:g.34885G>A
NG_009017.2:g.34885G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*21G>A	ENSP00000457521.2:n.*21G>A
ENST00000682061.1:c.*1023G>A	ENSP00000508316.1:n.*1023G>A
ENST00000682064.1:n.904G>A
ENST00000682177.1:c.1404G>A	ENSP00000507409.1:n.1404G>A
ENST00000682235.1:n.700G>A
ENST00000682461.1:c.1467G>A	ENSP00000507308.1:n.1467G>A
ENST00000682653.1:n.1681G>A
ENST00000682657.1:c.*514G>A	ENSP00000507753.1:n.*514G>A
ENST00000682721.1:c.*1164G>A	ENSP00000507535.1:n.*1164G>A
ENST00000682843.1:c.*1002G>A	ENSP00000508173.1:n.*1002G>A
ENST00000683003.1:c.*514G>A	ENSP00000507576.1:n.*514G>A
ENST00000683133.1:c.1545G>A	ENSP00000508108.1:n.1545G>A
ENST00000683243.1:c.*514G>A	ENSP00000507042.1:n.*514G>A
ENST00000683463.1:c.*166G>A	ENSP00000507986.1:n.*166G>A
ENST00000683548.1:n.1135G>A
ENST00000683579.1:c.*1259G>A	ENSP00000506867.1:n.*1259G>A
ENST00000683587.1:n.1208G>A
ENST00000683681.1:c.1361G>A	ENSP00000508110.1:p.Gly454Asp
ENST00000683735.1:c.*1075G>A	ENSP00000508336.1:n.*1075G>A
ENST00000683853.1:c.*166G>A	ENSP00000506834.1:n.*166G>A
ENST00000683860.1:c.1361G>A	ENSP00000507179.1:p.Gly454Asp
ENST00000683884.1:c.*4G>A	ENSP00000507004.1:n.*4G>A
ENST00000684041.1:c.1361G>A	ENSP00000508382.1:p.Gly454Asp
ENST00000684125.1:c.*21G>A	ENSP00000507320.1:n.*21G>A
ENST00000684203.1:n.3126G>A
ENST00000684231.1:c.*771G>A	ENSP00000507748.1:n.*771G>A
ENST00000684263.1:c.*301G>A	ENSP00000508369.1:n.*301G>A
ENST00000684305.1:c.1809G>A	ENSP00000506819.1:n.1809G>A
ENST00000684415.1:c.*228G>A	ENSP00000507227.1:n.*228G>A
ENST00000684520.1:c.1361G>A	ENSP00000506826.1:p.Gly454Asp
ENST00000684602.1:c.*1027G>A	ENSP00000507996.1:n.*1027G>A
ENST00000684667.1:c.1692G>A	ENSP00000507003.1:n.1692G>A
ENST00000268097.10:c.1361G>A MANE Select	ENSP00000268097.6:p.Gly454Asp
ENST00000268097.9:c.1361G>A	ENSP00000268097.5:p.Gly454Asp
ENST00000379915.4:c.443G>A	ENSP00000478716.1:p.Gly148Asp
ENST00000563762.5:c.856G>A	ENSP00000456346.1:n.856G>A
ENST00000566304.5:c.1394G>A	ENSP00000455114.1:p.Gly465Asp
ENST00000566672.5:c.*771G>A	ENSP00000457037.1:n.*771G>A
ENST00000567027.5:c.976G>A
ENST00000567159.5:c.1361G>A	ENSP00000456489.1:p.Gly454Asp
ENST00000567411.5:c.*882G>A	ENSP00000455545.1:n.*882G>A
ENST00000568777.5:n.6581G>A
ENST00000569410.5:c.*166G>A	ENSP00000457125.1:n.*166G>A
NM_000520.4:c.1361G>A	NP_000511.2:p.Gly454Asp
NM_000520.5:c.1361G>A	NP_000511.2:p.Gly454Asp
NM_001318825.1:c.1394G>A	NP_001305754.1:p.Gly465Asp
NR_134869.1:n.1605G>A
NM_000520.6:c.1361G>A MANE Select	NP_000511.2:p.Gly454Asp
NM_001318825.2:c.1394G>A	NP_001305754.1:p.Gly465Asp
NR_134869.2:n.1146G>A
NR_134869.3:n.1146G>A