Canonical Allele Identifier: CA221064

Gene: HEXA

Linked Data

• ClinVar Variation Id: 3920
• ClinVar RCV Id: RCV000004126 ; RCV000079047 ; RCV002415396 ; RCV003952341
• dbSNP Id: rs76173977
• ExAC: 15:72640388 C / T
• gnomAD v2: 15-72640388-C-T
• gnomAD v3: 15-72348047-C-T
• gnomAD v4: 15-72348047-C-T
• COSMIC: COSM3370247
• MyVariant Identifiers: chr15:g.72640388C>T (hg19) ; chr15:g.72348047C>T (hg38)
• MutSpliceDB: CA221064
• PubMed: PMID:1301938 ; PMID:1307230 ; PMID:1384323 ; PMID:1387685 ; PMID:1837283 ; PMID:8326491 ; PMID:8444467 ; PMID:8490625 ; PMID:20301397 ; PMID:21228398 ; PMID:22344438 ; PMID:22789865 ; PMID:22975760 ; PMID:24088041 ; PMID:26633545

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72348047C>T , CM000677.2:g.72348047C>T	GRCh38
NC_000015.9:g.72640388C>T , CM000677.1:g.72640388C>T	GRCh37
NC_000015.8:g.70427442C>T	NCBI36
NG_009017.1:g.33133G>A
NG_009017.2:g.33133G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3420G>A
ENST00000567027.6:c.1073+1G>A	ENSP00000457521.2:n.1073+1G>A
ENST00000682061.1:c.*735+1G>A	ENSP00000508316.1:n.*735+1G>A
ENST00000682177.1:c.1116+1G>A	ENSP00000507409.1:n.1116+1G>A
ENST00000682461.1:c.1179+1G>A	ENSP00000507308.1:n.1179+1G>A
ENST00000682653.1:n.1105G>A
ENST00000682657.1:c.*483+1G>A	ENSP00000507753.1:n.*483+1G>A
ENST00000682721.1:c.*876+1G>A	ENSP00000507535.1:n.*876+1G>A
ENST00000682843.1:c.*971+1G>A	ENSP00000508173.1:n.*971+1G>A
ENST00000683003.1:c.*483+1G>A	ENSP00000507576.1:n.*483+1G>A
ENST00000683133.1:c.1257+1G>A	ENSP00000508108.1:n.1257+1G>A
ENST00000683228.1:n.1104+1G>A
ENST00000683243.1:c.*483+1G>A	ENSP00000507042.1:n.*483+1G>A
ENST00000683463.1:c.1073+1G>A	ENSP00000507986.1:n.1073+1G>A
ENST00000683548.1:n.1104+1G>A
ENST00000683579.1:c.*971+1G>A	ENSP00000506867.1:n.*971+1G>A
ENST00000683587.1:n.1104+1G>A
ENST00000683681.1:c.1073+1G>A	ENSP00000508110.1:n.1073+1G>A
ENST00000683735.1:c.*971+1G>A	ENSP00000508336.1:n.*971+1G>A
ENST00000683742.1:n.904+1G>A
ENST00000683853.1:c.1073+1G>A	ENSP00000506834.1:n.1073+1G>A
ENST00000683860.1:c.1073+1G>A	ENSP00000507179.1:n.1073+1G>A
ENST00000683884.1:c.1073+1G>A	ENSP00000507004.1:n.1073+1G>A
ENST00000684041.1:c.1073+1G>A	ENSP00000508382.1:n.1073+1G>A
ENST00000684125.1:c.1073+1G>A	ENSP00000507320.1:n.1073+1G>A
ENST00000684203.1:n.2911+1G>A
ENST00000684231.1:c.*483+1G>A	ENSP00000507748.1:n.*483+1G>A
ENST00000684263.1:c.1074G>A	ENSP00000508369.1:p.Thr358=
ENST00000684305.1:c.1521+1G>A	ENSP00000506819.1:n.1521+1G>A
ENST00000684415.1:c.1074G>A	ENSP00000507227.1:p.Thr358=
ENST00000684520.1:c.1073+1G>A	ENSP00000506826.1:n.1073+1G>A
ENST00000684602.1:c.*739+1G>A	ENSP00000507996.1:n.*739+1G>A
ENST00000684667.1:c.1404+1G>A	ENSP00000507003.1:n.1404+1G>A
ENST00000268097.10:c.1073+1G>A MANE Select	ENSP00000268097.6:n.1073+1G>A
ENST00000268097.9:c.1073+1G>A	ENSP00000268097.5:n.1073+1G>A
ENST00000379915.4:c.413-1722G>A	ENSP00000478716.1:n.413-1722G>A
ENST00000563762.5:c.825+1G>A	ENSP00000456346.1:n.825+1G>A
ENST00000566304.5:c.1106+1G>A	ENSP00000455114.1:n.1106+1G>A
ENST00000566672.5:c.*483+1G>A	ENSP00000457037.1:n.*483+1G>A
ENST00000567027.5:c.945+1G>A
ENST00000567159.5:c.1073+1G>A	ENSP00000456489.1:n.1073+1G>A
ENST00000567411.5:c.*594+1G>A	ENSP00000455545.1:n.*594+1G>A
ENST00000568777.5:n.6477+1G>A
ENST00000569410.5:c.1073+1G>A	ENSP00000457125.1:n.1073+1G>A
NM_000520.4:c.1073+1G>A	NP_000511.2:n.1073+1G>A
NM_000520.5:c.1073+1G>A	NP_000511.2:n.1073+1G>A
NM_001318825.1:c.1106+1G>A	NP_001305754.1:n.1106+1G>A
NR_134869.1:n.1574+1G>A
NM_000520.6:c.1073+1G>A MANE Select	NP_000511.2:n.1073+1G>A
NM_001318825.2:c.1106+1G>A	NP_001305754.1:n.1106+1G>A
NR_134869.2:n.1115+1G>A
NR_134869.3:n.1115+1G>A