Canonical Allele Identifier: CA7644831

Gene: HEXA

Linked Data

• ClinVar Variation Id: 1619259
• ClinVar RCV Id: RCV002086595
• dbSNP Id: rs746518979
• ExAC: 15:72640415 C / T
• gnomAD v2: 15-72640415-C-T
• gnomAD v4: 15-72348074-C-T
• MyVariant Identifiers: chr15:g.72640415C>T (hg19) ; chr15:g.72348074C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72348074C>T , CM000677.2:g.72348074C>T	GRCh38
NC_000015.9:g.72640415C>T , CM000677.1:g.72640415C>T	GRCh37
NC_000015.8:g.70427469C>T	NCBI36
NG_009017.1:g.33106G>A
NG_009017.2:g.33106G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.3393G>A
ENST00000567027.6:c.1047G>A	ENSP00000457521.2:p.Lys349=
ENST00000682061.1:c.*709G>A	ENSP00000508316.1:n.*709G>A
ENST00000682177.1:c.1090G>A	ENSP00000507409.1:n.1090G>A
ENST00000682461.1:c.1153G>A	ENSP00000507308.1:n.1153G>A
ENST00000682653.1:n.1078G>A
ENST00000682657.1:c.*457G>A	ENSP00000507753.1:n.*457G>A
ENST00000682721.1:c.*850G>A	ENSP00000507535.1:n.*850G>A
ENST00000682843.1:c.*945G>A	ENSP00000508173.1:n.*945G>A
ENST00000683003.1:c.*457G>A	ENSP00000507576.1:n.*457G>A
ENST00000683133.1:c.1231G>A	ENSP00000508108.1:n.1231G>A
ENST00000683228.1:n.1078G>A
ENST00000683243.1:c.*457G>A	ENSP00000507042.1:n.*457G>A
ENST00000683463.1:c.1047G>A	ENSP00000507986.1:p.Lys349=
ENST00000683548.1:n.1078G>A
ENST00000683579.1:c.*945G>A	ENSP00000506867.1:n.*945G>A
ENST00000683587.1:n.1078G>A
ENST00000683681.1:c.1047G>A	ENSP00000508110.1:p.Lys349=
ENST00000683735.1:c.*945G>A	ENSP00000508336.1:n.*945G>A
ENST00000683742.1:n.878G>A
ENST00000683853.1:c.1047G>A	ENSP00000506834.1:p.Lys349=
ENST00000683860.1:c.1047G>A	ENSP00000507179.1:p.Lys349=
ENST00000683884.1:c.1047G>A	ENSP00000507004.1:p.Lys349=
ENST00000684041.1:c.1047G>A	ENSP00000508382.1:p.Lys349=
ENST00000684125.1:c.1047G>A	ENSP00000507320.1:p.Lys349=
ENST00000684203.1:n.2885G>A
ENST00000684231.1:c.*457G>A	ENSP00000507748.1:n.*457G>A
ENST00000684263.1:c.1047G>A	ENSP00000508369.1:p.Lys349=
ENST00000684305.1:c.1495G>A	ENSP00000506819.1:n.1495G>A
ENST00000684415.1:c.1047G>A	ENSP00000507227.1:p.Lys349=
ENST00000684520.1:c.1047G>A	ENSP00000506826.1:p.Lys349=
ENST00000684602.1:c.*713G>A	ENSP00000507996.1:n.*713G>A
ENST00000684667.1:c.1378G>A	ENSP00000507003.1:n.1378G>A
ENST00000268097.10:c.1047G>A MANE Select	ENSP00000268097.6:p.Lys349=
ENST00000268097.9:c.1047G>A	ENSP00000268097.5:p.Lys349=
ENST00000379915.4:c.413-1749G>A	ENSP00000478716.1:n.413-1749G>A
ENST00000563762.5:c.799G>A	ENSP00000456346.1:n.799G>A
ENST00000566304.5:c.1080G>A	ENSP00000455114.1:p.Lys360=
ENST00000566672.5:c.*457G>A	ENSP00000457037.1:n.*457G>A
ENST00000567027.5:c.919G>A
ENST00000567159.5:c.1047G>A	ENSP00000456489.1:p.Lys349=
ENST00000567411.5:c.*568G>A	ENSP00000455545.1:n.*568G>A
ENST00000568777.5:n.6451G>A
ENST00000569410.5:c.1047G>A	ENSP00000457125.1:p.Lys349=
NM_000520.4:c.1047G>A	NP_000511.2:p.Lys349=
NM_000520.5:c.1047G>A	NP_000511.2:p.Lys349=
NM_001318825.1:c.1080G>A	NP_001305754.1:p.Lys360=
NR_134869.1:n.1548G>A
NM_000520.6:c.1047G>A MANE Select	NP_000511.2:p.Lys349=
NM_001318825.2:c.1080G>A	NP_001305754.1:p.Lys360=
NR_134869.2:n.1089G>A
NR_134869.3:n.1089G>A