Canonical Allele Identifier: CA2629340334

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345327-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345327C>A , CM000677.2:g.72345327C>A	GRCh38
NC_000015.9:g.72637668C>A , CM000677.1:g.72637668C>A	GRCh37
NC_000015.8:g.70424722C>A	NCBI36
NG_009017.1:g.35853G>T
NG_009017.2:g.35853G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*305G>T	ENSP00000457521.2:n.*305G>T
ENST00000682061.1:c.*1991G>T	ENSP00000508316.1:n.*1991G>T
ENST00000682064.1:n.1753+119G>T
ENST00000682177.1:c.1688G>T	ENSP00000507409.1:n.1688G>T
ENST00000682235.1:n.1549+119G>T
ENST00000682461.1:c.1632+119G>T	ENSP00000507308.1:n.1632+119G>T
ENST00000682653.1:n.2649G>T
ENST00000682657.1:c.*1482G>T	ENSP00000507753.1:n.*1482G>T
ENST00000682721.1:c.*1329+119G>T	ENSP00000507535.1:n.*1329+119G>T
ENST00000682843.1:c.*1167+119G>T	ENSP00000508173.1:n.*1167+119G>T
ENST00000683133.1:c.1710+119G>T	ENSP00000508108.1:n.1710+119G>T
ENST00000683243.1:c.*679+119G>T	ENSP00000507042.1:n.*679+119G>T
ENST00000683463.1:c.*1015+119G>T	ENSP00000507986.1:n.*1015+119G>T
ENST00000683548.1:n.1984+119G>T
ENST00000683579.1:c.*1424+119G>T	ENSP00000506867.1:n.*1424+119G>T
ENST00000683587.1:n.2057+119G>T
ENST00000683681.1:c.*204+119G>T	ENSP00000508110.1:n.*204+119G>T
ENST00000683735.1:c.*1924+119G>T	ENSP00000508336.1:n.*1924+119G>T
ENST00000683853.1:c.*450G>T	ENSP00000506834.1:n.*450G>T
ENST00000683860.1:c.*646+119G>T	ENSP00000507179.1:n.*646+119G>T
ENST00000683884.1:c.*972G>T	ENSP00000507004.1:n.*972G>T
ENST00000684125.1:c.*186+119G>T	ENSP00000507320.1:n.*186+119G>T
ENST00000684203.1:n.3975+119G>T
ENST00000684231.1:c.*936+119G>T	ENSP00000507748.1:n.*936+119G>T
ENST00000684263.1:c.*1150+119G>T	ENSP00000508369.1:n.*1150+119G>T
ENST00000684305.1:c.1974+119G>T	ENSP00000506819.1:n.1974+119G>T
ENST00000684415.1:c.*1196G>T	ENSP00000507227.1:n.*1196G>T
ENST00000684520.1:c.*904G>T	ENSP00000506826.1:n.*904G>T
ENST00000684602.1:c.*1192+119G>T	ENSP00000507996.1:n.*1192+119G>T
ENST00000684667.1:c.1857+119G>T	ENSP00000507003.1:n.1857+119G>T
ENST00000268097.10:c.1526+119G>T MANE Select	ENSP00000268097.6:n.1526+119G>T
ENST00000268097.9:c.1526+119G>T	ENSP00000268097.5:n.1526+119G>T
ENST00000379915.4:c.608+119G>T	ENSP00000478716.1:n.608+119G>T
ENST00000564677.5:n.318+119G>T
ENST00000565873.1:n.437+119G>T
ENST00000566304.5:c.1559+119G>T	ENSP00000455114.1:n.1559+119G>T
ENST00000567027.5:c.1260G>T
ENST00000567411.5:c.*1047+119G>T	ENSP00000455545.1:n.*1047+119G>T
ENST00000568777.5:n.6865G>T
ENST00000569116.1:n.352G>T
NM_000520.4:c.1526+119G>T	NP_000511.2:n.1526+119G>T
NM_000520.5:c.1526+119G>T	NP_000511.2:n.1526+119G>T
NM_001318825.1:c.1559+119G>T	NP_001305754.1:n.1559+119G>T
NR_134869.1:n.1889G>T
NM_000520.6:c.1526+119G>T MANE Select	NP_000511.2:n.1526+119G>T
NM_001318825.2:c.1559+119G>T	NP_001305754.1:n.1559+119G>T
NR_134869.2:n.1430G>T
NR_134869.3:n.1430G>T