Canonical Allele Identifier: CA14172512

Gene: HEXA

Linked Data

• ClinVar Variation Id: 1248680
• ClinVar RCV Id: RCV001654617
• dbSNP Id: rs10468051
• gnomAD v2: 15-72637599-C-T
• gnomAD v3: 15-72345258-C-T
• gnomAD v4: 15-72345258-C-T
• MyVariant Identifiers: chr15:g.72637599C>T (hg19) ; chr15:g.72345258C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345258C>T , CM000677.2:g.72345258C>T	GRCh38
NC_000015.9:g.72637599C>T , CM000677.1:g.72637599C>T	GRCh37
NC_000015.8:g.70424653C>T	NCBI36
NG_009017.1:g.35922G>A
NG_009017.2:g.35922G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*374G>A	ENSP00000457521.2:n.*374G>A
ENST00000682061.1:c.*2060G>A	ENSP00000508316.1:n.*2060G>A
ENST00000682064.1:n.1753+188G>A
ENST00000682235.1:n.1549+188G>A
ENST00000682461.1:c.1632+188G>A	ENSP00000507308.1:n.1632+188G>A
ENST00000682653.1:n.2718G>A
ENST00000682657.1:c.*1551G>A	ENSP00000507753.1:n.*1551G>A
ENST00000682721.1:c.*1329+188G>A	ENSP00000507535.1:n.*1329+188G>A
ENST00000682843.1:c.*1167+188G>A	ENSP00000508173.1:n.*1167+188G>A
ENST00000683133.1:c.1710+188G>A	ENSP00000508108.1:n.1710+188G>A
ENST00000683243.1:c.*679+188G>A	ENSP00000507042.1:n.*679+188G>A
ENST00000683463.1:c.*1015+188G>A	ENSP00000507986.1:n.*1015+188G>A
ENST00000683548.1:n.1984+188G>A
ENST00000683579.1:c.*1424+188G>A	ENSP00000506867.1:n.*1424+188G>A
ENST00000683587.1:n.2057+188G>A
ENST00000683681.1:c.*204+188G>A	ENSP00000508110.1:n.*204+188G>A
ENST00000683735.1:c.*1924+188G>A	ENSP00000508336.1:n.*1924+188G>A
ENST00000683853.1:c.*519G>A	ENSP00000506834.1:n.*519G>A
ENST00000683860.1:c.*646+188G>A	ENSP00000507179.1:n.*646+188G>A
ENST00000684125.1:c.*186+188G>A	ENSP00000507320.1:n.*186+188G>A
ENST00000684203.1:n.3975+188G>A
ENST00000684231.1:c.*936+188G>A	ENSP00000507748.1:n.*936+188G>A
ENST00000684263.1:c.*1150+188G>A	ENSP00000508369.1:n.*1150+188G>A
ENST00000684305.1:c.1974+188G>A	ENSP00000506819.1:n.1974+188G>A
ENST00000684415.1:c.*1265G>A	ENSP00000507227.1:n.*1265G>A
ENST00000684520.1:c.*973G>A	ENSP00000506826.1:n.*973G>A
ENST00000684602.1:c.*1192+188G>A	ENSP00000507996.1:n.*1192+188G>A
ENST00000684667.1:c.1857+188G>A	ENSP00000507003.1:n.1857+188G>A
ENST00000268097.10:c.1526+188G>A MANE Select	ENSP00000268097.6:n.1526+188G>A
ENST00000268097.9:c.1526+188G>A	ENSP00000268097.5:n.1526+188G>A
ENST00000379915.4:c.608+188G>A	ENSP00000478716.1:n.608+188G>A
ENST00000564677.5:n.318+188G>A
ENST00000565873.1:n.437+188G>A
ENST00000566304.5:c.1559+188G>A	ENSP00000455114.1:n.1559+188G>A
ENST00000567027.5:c.1329G>A
ENST00000567411.5:c.*1047+188G>A	ENSP00000455545.1:n.*1047+188G>A
ENST00000569116.1:n.421G>A
NM_000520.4:c.1526+188G>A	NP_000511.2:n.1526+188G>A
NM_000520.5:c.1526+188G>A	NP_000511.2:n.1526+188G>A
NM_001318825.1:c.1559+188G>A	NP_001305754.1:n.1559+188G>A
NR_134869.1:n.1958G>A
NM_000520.6:c.1526+188G>A MANE Select	NP_000511.2:n.1526+188G>A
NM_001318825.2:c.1559+188G>A	NP_001305754.1:n.1559+188G>A
NR_134869.2:n.1499G>A
NR_134869.3:n.1499G>A