Canonical Allele Identifier: CA2629340317

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345302-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345302A>C , CM000677.2:g.72345302A>C	GRCh38
NC_000015.9:g.72637643A>C , CM000677.1:g.72637643A>C	GRCh37
NC_000015.8:g.70424697A>C	NCBI36
NG_009017.1:g.35878T>G
NG_009017.2:g.35878T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*330T>G	ENSP00000457521.2:n.*330T>G
ENST00000682061.1:c.*2016T>G	ENSP00000508316.1:n.*2016T>G
ENST00000682064.1:n.1753+144T>G
ENST00000682177.1:c.1713T>G	ENSP00000507409.1:n.1713T>G
ENST00000682235.1:n.1549+144T>G
ENST00000682461.1:c.1632+144T>G	ENSP00000507308.1:n.1632+144T>G
ENST00000682653.1:n.2674T>G
ENST00000682657.1:c.*1507T>G	ENSP00000507753.1:n.*1507T>G
ENST00000682721.1:c.*1329+144T>G	ENSP00000507535.1:n.*1329+144T>G
ENST00000682843.1:c.*1167+144T>G	ENSP00000508173.1:n.*1167+144T>G
ENST00000683133.1:c.1710+144T>G	ENSP00000508108.1:n.1710+144T>G
ENST00000683243.1:c.*679+144T>G	ENSP00000507042.1:n.*679+144T>G
ENST00000683463.1:c.*1015+144T>G	ENSP00000507986.1:n.*1015+144T>G
ENST00000683548.1:n.1984+144T>G
ENST00000683579.1:c.*1424+144T>G	ENSP00000506867.1:n.*1424+144T>G
ENST00000683587.1:n.2057+144T>G
ENST00000683681.1:c.*204+144T>G	ENSP00000508110.1:n.*204+144T>G
ENST00000683735.1:c.*1924+144T>G	ENSP00000508336.1:n.*1924+144T>G
ENST00000683853.1:c.*475T>G	ENSP00000506834.1:n.*475T>G
ENST00000683860.1:c.*646+144T>G	ENSP00000507179.1:n.*646+144T>G
ENST00000683884.1:c.*997T>G	ENSP00000507004.1:n.*997T>G
ENST00000684125.1:c.*186+144T>G	ENSP00000507320.1:n.*186+144T>G
ENST00000684203.1:n.3975+144T>G
ENST00000684231.1:c.*936+144T>G	ENSP00000507748.1:n.*936+144T>G
ENST00000684263.1:c.*1150+144T>G	ENSP00000508369.1:n.*1150+144T>G
ENST00000684305.1:c.1974+144T>G	ENSP00000506819.1:n.1974+144T>G
ENST00000684415.1:c.*1221T>G	ENSP00000507227.1:n.*1221T>G
ENST00000684520.1:c.*929T>G	ENSP00000506826.1:n.*929T>G
ENST00000684602.1:c.*1192+144T>G	ENSP00000507996.1:n.*1192+144T>G
ENST00000684667.1:c.1857+144T>G	ENSP00000507003.1:n.1857+144T>G
ENST00000268097.10:c.1526+144T>G MANE Select	ENSP00000268097.6:n.1526+144T>G
ENST00000268097.9:c.1526+144T>G	ENSP00000268097.5:n.1526+144T>G
ENST00000379915.4:c.608+144T>G	ENSP00000478716.1:n.608+144T>G
ENST00000564677.5:n.318+144T>G
ENST00000565873.1:n.437+144T>G
ENST00000566304.5:c.1559+144T>G	ENSP00000455114.1:n.1559+144T>G
ENST00000567027.5:c.1285T>G
ENST00000567411.5:c.*1047+144T>G	ENSP00000455545.1:n.*1047+144T>G
ENST00000568777.5:n.6890T>G
ENST00000569116.1:n.377T>G
NM_000520.4:c.1526+144T>G	NP_000511.2:n.1526+144T>G
NM_000520.5:c.1526+144T>G	NP_000511.2:n.1526+144T>G
NM_001318825.1:c.1559+144T>G	NP_001305754.1:n.1559+144T>G
NR_134869.1:n.1914T>G
NM_000520.6:c.1526+144T>G MANE Select	NP_000511.2:n.1526+144T>G
NM_001318825.2:c.1559+144T>G	NP_001305754.1:n.1559+144T>G
NR_134869.2:n.1455T>G
NR_134869.3:n.1455T>G