Canonical Allele Identifier: CA971330893

Gene: HEXA

Linked Data

• dbSNP Id: rs1430272600
• gnomAD v3: 15-72347338-C-G
• gnomAD v4: 15-72347338-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347338C>G , CM000677.2:g.72347338C>G	GRCh38
NC_000015.9:g.72639679C>G , CM000677.1:g.72639679C>G	GRCh37
NC_000015.8:g.70426733C>G	NCBI36
NG_009017.1:g.33842G>C
NG_009017.2:g.33842G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+710G>C	ENSP00000457521.2:n.1073+710G>C
ENST00000682061.1:c.*808+348G>C	ENSP00000508316.1:n.*808+348G>C
ENST00000682177.1:c.1189+348G>C	ENSP00000507409.1:n.1189+348G>C
ENST00000682461.1:c.1252+348G>C	ENSP00000507308.1:n.1252+348G>C
ENST00000682653.1:n.1466+348G>C
ENST00000682657.1:c.*483+710G>C	ENSP00000507753.1:n.*483+710G>C
ENST00000682721.1:c.*949+348G>C	ENSP00000507535.1:n.*949+348G>C
ENST00000682843.1:c.*971+710G>C	ENSP00000508173.1:n.*971+710G>C
ENST00000683003.1:c.*483+710G>C	ENSP00000507576.1:n.*483+710G>C
ENST00000683133.1:c.1330+348G>C	ENSP00000508108.1:n.1330+348G>C
ENST00000683228.1:n.1525G>C
ENST00000683243.1:c.*483+710G>C	ENSP00000507042.1:n.*483+710G>C
ENST00000683463.1:c.1074-628G>C	ENSP00000507986.1:n.1074-628G>C
ENST00000683548.1:n.1104+710G>C
ENST00000683579.1:c.*1044+348G>C	ENSP00000506867.1:n.*1044+348G>C
ENST00000683587.1:n.1177+348G>C
ENST00000683681.1:c.1146+348G>C	ENSP00000508110.1:n.1146+348G>C
ENST00000683735.1:c.*1044+348G>C	ENSP00000508336.1:n.*1044+348G>C
ENST00000683742.1:n.1325G>C
ENST00000683853.1:c.1074-628G>C	ENSP00000506834.1:n.1074-628G>C
ENST00000683860.1:c.1146+348G>C	ENSP00000507179.1:n.1146+348G>C
ENST00000683884.1:c.1146+348G>C	ENSP00000507004.1:n.1146+348G>C
ENST00000684041.1:c.1146+348G>C	ENSP00000508382.1:n.1146+348G>C
ENST00000684125.1:c.1073+710G>C	ENSP00000507320.1:n.1073+710G>C
ENST00000684203.1:n.2912-628G>C
ENST00000684231.1:c.*556+348G>C	ENSP00000507748.1:n.*556+348G>C
ENST00000684263.1:c.*86+348G>C	ENSP00000508369.1:n.*86+348G>C
ENST00000684305.1:c.1594+348G>C	ENSP00000506819.1:n.1594+348G>C
ENST00000684415.1:c.*14-628G>C	ENSP00000507227.1:n.*14-628G>C
ENST00000684520.1:c.1146+348G>C	ENSP00000506826.1:n.1146+348G>C
ENST00000684602.1:c.*812+348G>C	ENSP00000507996.1:n.*812+348G>C
ENST00000684667.1:c.1477+348G>C	ENSP00000507003.1:n.1477+348G>C
ENST00000268097.10:c.1146+348G>C MANE Select	ENSP00000268097.6:n.1146+348G>C
ENST00000268097.9:c.1146+348G>C	ENSP00000268097.5:n.1146+348G>C
ENST00000379915.4:c.413-1013G>C	ENSP00000478716.1:n.413-1013G>C
ENST00000563762.5:c.825+710G>C	ENSP00000456346.1:n.825+710G>C
ENST00000566304.5:c.1179+348G>C	ENSP00000455114.1:n.1179+348G>C
ENST00000566672.5:c.*556+348G>C	ENSP00000457037.1:n.*556+348G>C
ENST00000567027.5:c.945+710G>C
ENST00000567159.5:c.1146+348G>C	ENSP00000456489.1:n.1146+348G>C
ENST00000567411.5:c.*667+348G>C	ENSP00000455545.1:n.*667+348G>C
ENST00000568777.5:n.6550+348G>C
ENST00000569410.5:c.1074-628G>C	ENSP00000457125.1:n.1074-628G>C
NM_000520.4:c.1146+348G>C	NP_000511.2:n.1146+348G>C
NM_000520.5:c.1146+348G>C	NP_000511.2:n.1146+348G>C
NM_001318825.1:c.1179+348G>C	NP_001305754.1:n.1179+348G>C
NR_134869.1:n.1574+710G>C
NM_000520.6:c.1146+348G>C MANE Select	NP_000511.2:n.1146+348G>C
NM_001318825.2:c.1179+348G>C	NP_001305754.1:n.1179+348G>C
NR_134869.2:n.1115+710G>C
NR_134869.3:n.1115+710G>C