Canonical Allele Identifier: CA2186743198

Gene: HEXA

Linked Data

• dbSNP Id: rs942097828
• gnomAD v4: 15-72345337-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345337G>T , CM000677.2:g.72345337G>T	GRCh38
NC_000015.9:g.72637678G>T , CM000677.1:g.72637678G>T	GRCh37
NC_000015.8:g.70424732G>T	NCBI36
NG_009017.1:g.35843C>A
NG_009017.2:g.35843C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*295C>A	ENSP00000457521.2:n.*295C>A
ENST00000682061.1:c.*1981C>A	ENSP00000508316.1:n.*1981C>A
ENST00000682064.1:n.1753+109C>A
ENST00000682177.1:c.1678C>A	ENSP00000507409.1:n.1678C>A
ENST00000682235.1:n.1549+109C>A
ENST00000682461.1:c.1632+109C>A	ENSP00000507308.1:n.1632+109C>A
ENST00000682653.1:n.2639C>A
ENST00000682657.1:c.*1472C>A	ENSP00000507753.1:n.*1472C>A
ENST00000682721.1:c.*1329+109C>A	ENSP00000507535.1:n.*1329+109C>A
ENST00000682843.1:c.*1167+109C>A	ENSP00000508173.1:n.*1167+109C>A
ENST00000683003.1:c.*1472C>A	ENSP00000507576.1:n.*1472C>A
ENST00000683133.1:c.1710+109C>A	ENSP00000508108.1:n.1710+109C>A
ENST00000683243.1:c.*679+109C>A	ENSP00000507042.1:n.*679+109C>A
ENST00000683463.1:c.*1015+109C>A	ENSP00000507986.1:n.*1015+109C>A
ENST00000683548.1:n.1984+109C>A
ENST00000683579.1:c.*1424+109C>A	ENSP00000506867.1:n.*1424+109C>A
ENST00000683587.1:n.2057+109C>A
ENST00000683681.1:c.*204+109C>A	ENSP00000508110.1:n.*204+109C>A
ENST00000683735.1:c.*1924+109C>A	ENSP00000508336.1:n.*1924+109C>A
ENST00000683853.1:c.*440C>A	ENSP00000506834.1:n.*440C>A
ENST00000683860.1:c.*646+109C>A	ENSP00000507179.1:n.*646+109C>A
ENST00000683884.1:c.*962C>A	ENSP00000507004.1:n.*962C>A
ENST00000684125.1:c.*186+109C>A	ENSP00000507320.1:n.*186+109C>A
ENST00000684203.1:n.3975+109C>A
ENST00000684231.1:c.*936+109C>A	ENSP00000507748.1:n.*936+109C>A
ENST00000684263.1:c.*1150+109C>A	ENSP00000508369.1:n.*1150+109C>A
ENST00000684305.1:c.1974+109C>A	ENSP00000506819.1:n.1974+109C>A
ENST00000684415.1:c.*1186C>A	ENSP00000507227.1:n.*1186C>A
ENST00000684520.1:c.*894C>A	ENSP00000506826.1:n.*894C>A
ENST00000684602.1:c.*1192+109C>A	ENSP00000507996.1:n.*1192+109C>A
ENST00000684667.1:c.1857+109C>A	ENSP00000507003.1:n.1857+109C>A
ENST00000268097.10:c.1526+109C>A MANE Select	ENSP00000268097.6:n.1526+109C>A
ENST00000268097.9:c.1526+109C>A	ENSP00000268097.5:n.1526+109C>A
ENST00000379915.4:c.608+109C>A	ENSP00000478716.1:n.608+109C>A
ENST00000564677.5:n.318+109C>A
ENST00000565873.1:n.437+109C>A
ENST00000566304.5:c.1559+109C>A	ENSP00000455114.1:n.1559+109C>A
ENST00000567027.5:c.1250C>A
ENST00000567411.5:c.*1047+109C>A	ENSP00000455545.1:n.*1047+109C>A
ENST00000568777.5:n.6855C>A
ENST00000569116.1:n.342C>A
NM_000520.4:c.1526+109C>A	NP_000511.2:n.1526+109C>A
NM_000520.5:c.1526+109C>A	NP_000511.2:n.1526+109C>A
NM_001318825.1:c.1559+109C>A	NP_001305754.1:n.1559+109C>A
NR_134869.1:n.1879C>A
NM_000520.6:c.1526+109C>A MANE Select	NP_000511.2:n.1526+109C>A
NM_001318825.2:c.1559+109C>A	NP_001305754.1:n.1559+109C>A
NR_134869.2:n.1420C>A
NR_134869.3:n.1420C>A