Canonical Allele Identifier: CA2629343853

Gene: HEXA

Linked Data

• gnomAD v4: 15-72348968-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72348968C>A , CM000677.2:g.72348968C>A	GRCh38
NC_000015.9:g.72641309C>A , CM000677.1:g.72641309C>A	GRCh37
NC_000015.8:g.70428363C>A	NCBI36
NG_009017.1:g.32212G>T
NG_009017.2:g.32212G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3332+111G>T
ENST00000567027.6:c.986+111G>T	ENSP00000457521.2:n.986+111G>T
ENST00000682061.1:c.*648+111G>T	ENSP00000508316.1:n.*648+111G>T
ENST00000682177.1:c.1029+111G>T	ENSP00000507409.1:n.1029+111G>T
ENST00000682461.1:c.1092+111G>T	ENSP00000507308.1:n.1092+111G>T
ENST00000682653.1:n.1017+111G>T
ENST00000682657.1:c.*396+111G>T	ENSP00000507753.1:n.*396+111G>T
ENST00000682721.1:c.*789+111G>T	ENSP00000507535.1:n.*789+111G>T
ENST00000682843.1:c.*884+111G>T	ENSP00000508173.1:n.*884+111G>T
ENST00000683003.1:c.*396+111G>T	ENSP00000507576.1:n.*396+111G>T
ENST00000683133.1:c.1170+111G>T	ENSP00000508108.1:n.1170+111G>T
ENST00000683228.1:n.1017+111G>T
ENST00000683243.1:c.*396+111G>T	ENSP00000507042.1:n.*396+111G>T
ENST00000683463.1:c.986+111G>T	ENSP00000507986.1:n.986+111G>T
ENST00000683548.1:n.1017+111G>T
ENST00000683579.1:c.*884+111G>T	ENSP00000506867.1:n.*884+111G>T
ENST00000683587.1:n.1017+111G>T
ENST00000683681.1:c.986+111G>T	ENSP00000508110.1:n.986+111G>T
ENST00000683735.1:c.*884+111G>T	ENSP00000508336.1:n.*884+111G>T
ENST00000683742.1:n.817+111G>T
ENST00000683853.1:c.986+111G>T	ENSP00000506834.1:n.986+111G>T
ENST00000683860.1:c.986+111G>T	ENSP00000507179.1:n.986+111G>T
ENST00000683884.1:c.986+111G>T	ENSP00000507004.1:n.986+111G>T
ENST00000684041.1:c.986+111G>T	ENSP00000508382.1:n.986+111G>T
ENST00000684125.1:c.986+111G>T	ENSP00000507320.1:n.986+111G>T
ENST00000684203.1:n.2824+111G>T
ENST00000684231.1:c.*396+111G>T	ENSP00000507748.1:n.*396+111G>T
ENST00000684263.1:c.986+111G>T	ENSP00000508369.1:n.986+111G>T
ENST00000684305.1:c.1434+111G>T	ENSP00000506819.1:n.1434+111G>T
ENST00000684415.1:c.986+111G>T	ENSP00000507227.1:n.986+111G>T
ENST00000684520.1:c.986+111G>T	ENSP00000506826.1:n.986+111G>T
ENST00000684602.1:c.*652+111G>T	ENSP00000507996.1:n.*652+111G>T
ENST00000684667.1:c.1317+111G>T	ENSP00000507003.1:n.1317+111G>T
ENST00000268097.10:c.986+111G>T MANE Select	ENSP00000268097.6:n.986+111G>T
ENST00000268097.9:c.986+111G>T	ENSP00000268097.5:n.986+111G>T
ENST00000379915.4:c.413-2643G>T	ENSP00000478716.1:n.413-2643G>T
ENST00000563762.5:c.739-834G>T	ENSP00000456346.1:n.739-834G>T
ENST00000566304.5:c.1019+111G>T	ENSP00000455114.1:n.1019+111G>T
ENST00000566672.5:c.*396+111G>T	ENSP00000457037.1:n.*396+111G>T
ENST00000567027.5:c.858+111G>T
ENST00000567159.5:c.986+111G>T	ENSP00000456489.1:n.986+111G>T
ENST00000567411.5:c.*507+111G>T	ENSP00000455545.1:n.*507+111G>T
ENST00000568777.5:n.6390+111G>T
ENST00000569410.5:c.986+111G>T	ENSP00000457125.1:n.986+111G>T
NM_000520.4:c.986+111G>T	NP_000511.2:n.986+111G>T
NM_000520.5:c.986+111G>T	NP_000511.2:n.986+111G>T
NM_001318825.1:c.1019+111G>T	NP_001305754.1:n.1019+111G>T
NR_134869.1:n.1487+111G>T
NM_000520.6:c.986+111G>T MANE Select	NP_000511.2:n.986+111G>T
NM_001318825.2:c.1019+111G>T	NP_001305754.1:n.1019+111G>T
NR_134869.2:n.1028+111G>T
NR_134869.3:n.1028+111G>T