Canonical Allele Identifier: CA274467

Gene: HEXA

Linked Data

• ClinVar Variation Id: 189180
• ClinVar RCV Id: RCV000169610 ; RCV002478524
• dbSNP Id: rs786204754
• gnomAD v4: 15-72353067-C-T
• MyVariant Identifiers: chr15:g.72645408C>T (hg19) ; chr15:g.72353067C>T (hg38)
• PubMed: PMID:7749419 ; PMID:10083731

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72353067C>T , CM000677.2:g.72353067C>T	GRCh38
NC_000015.9:g.72645408C>T , CM000677.1:g.72645408C>T	GRCh37
NC_000015.8:g.70432462C>T	NCBI36
NG_009017.1:g.28113G>A
NG_009017.2:g.28113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.2916+1G>A
ENST00000567027.6:c.570+1G>A	ENSP00000457521.2:n.570+1G>A
ENST00000568260.2:c.590+1G>A	ENSP00000458128.2:n.590+1G>A
ENST00000682061.1:c.*232+1G>A	ENSP00000508316.1:n.*232+1G>A
ENST00000682177.1:c.570+1G>A	ENSP00000507409.1:n.570+1G>A
ENST00000682461.1:c.677-1833G>A	ENSP00000507308.1:n.677-1833G>A
ENST00000682653.1:n.601+1G>A
ENST00000682657.1:c.254-1833G>A	ENSP00000507753.1:n.254-1833G>A
ENST00000682721.1:c.*373+1G>A	ENSP00000507535.1:n.*373+1G>A
ENST00000682843.1:c.*468+1G>A	ENSP00000508173.1:n.*468+1G>A
ENST00000683003.1:c.413-1833G>A	ENSP00000507576.1:n.413-1833G>A
ENST00000683133.1:c.754+1G>A	ENSP00000508108.1:n.754+1G>A
ENST00000683228.1:n.601+1G>A
ENST00000683243.1:c.413-1833G>A	ENSP00000507042.1:n.413-1833G>A
ENST00000683463.1:c.570+1G>A	ENSP00000507986.1:n.570+1G>A
ENST00000683548.1:n.601+1G>A
ENST00000683579.1:c.*468+1G>A	ENSP00000506867.1:n.*468+1G>A
ENST00000683587.1:n.601+1G>A
ENST00000683681.1:c.570+1G>A	ENSP00000508110.1:n.570+1G>A
ENST00000683735.1:c.*468+1G>A	ENSP00000508336.1:n.*468+1G>A
ENST00000683853.1:c.570+1G>A	ENSP00000506834.1:n.570+1G>A
ENST00000683860.1:c.570+1G>A	ENSP00000507179.1:n.570+1G>A
ENST00000683884.1:c.570+1G>A	ENSP00000507004.1:n.570+1G>A
ENST00000684041.1:c.570+1G>A	ENSP00000508382.1:n.570+1G>A
ENST00000684125.1:c.570+1G>A	ENSP00000507320.1:n.570+1G>A
ENST00000684203.1:n.2408+1G>A
ENST00000684231.1:c.413-1833G>A	ENSP00000507748.1:n.413-1833G>A
ENST00000684263.1:c.570+1G>A	ENSP00000508369.1:n.570+1G>A
ENST00000684305.1:c.1018+1G>A	ENSP00000506819.1:n.1018+1G>A
ENST00000684415.1:c.570+1G>A	ENSP00000507227.1:n.570+1G>A
ENST00000684520.1:c.570+1G>A	ENSP00000506826.1:n.570+1G>A
ENST00000684602.1:c.*237-1833G>A	ENSP00000507996.1:n.*237-1833G>A
ENST00000684667.1:c.901+1G>A	ENSP00000507003.1:n.901+1G>A
ENST00000268097.10:c.570+1G>A MANE Select	ENSP00000268097.6:n.570+1G>A
ENST00000268097.9:c.570+1G>A	ENSP00000268097.5:n.570+1G>A
ENST00000379915.4:c.412+2492G>A	ENSP00000478716.1:n.412+2492G>A
ENST00000563762.5:c.504-1833G>A	ENSP00000456346.1:n.504-1833G>A
ENST00000566304.5:c.603+1G>A	ENSP00000455114.1:n.603+1G>A
ENST00000566672.5:c.413-1833G>A	ENSP00000457037.1:n.413-1833G>A
ENST00000567027.5:c.442+1G>A
ENST00000567159.5:c.570+1G>A	ENSP00000456489.1:n.570+1G>A
ENST00000567411.5:c.*91+1G>A	ENSP00000455545.1:n.*91+1G>A
ENST00000568260.1:c.571+1G>A
ENST00000568777.5:n.5974+1G>A
ENST00000569410.5:c.570+1G>A	ENSP00000457125.1:n.570+1G>A
ENST00000569509.5:n.418-1833G>A
NM_000520.4:c.570+1G>A	NP_000511.2:n.570+1G>A
NM_000520.5:c.570+1G>A	NP_000511.2:n.570+1G>A
NM_001318825.1:c.603+1G>A	NP_001305754.1:n.603+1G>A
NR_134869.1:n.1071+1G>A
NM_000520.6:c.570+1G>A MANE Select	NP_000511.2:n.570+1G>A
NM_001318825.2:c.603+1G>A	NP_001305754.1:n.603+1G>A
NR_134869.2:n.612+1G>A
NR_134869.3:n.612+1G>A