Canonical Allele Identifier: CA393059363

Gene: HEXA

Linked Data

• dbSNP Id: rs2088612933
• gnomAD v3: 15-72346314-G-C
• gnomAD v4: 15-72346314-G-C
• MyVariant Identifiers: chr15:g.72638655G>C (hg19) ; chr15:g.72346314G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346314G>C , CM000677.2:g.72346314G>C	GRCh38
NC_000015.9:g.72638655G>C , CM000677.1:g.72638655G>C	GRCh37
NC_000015.8:g.70425709G>C	NCBI36
NG_009017.1:g.34866C>G
NG_009017.2:g.34866C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*2C>G	ENSP00000457521.2:n.*2C>G
ENST00000682061.1:c.*1004C>G	ENSP00000508316.1:n.*1004C>G
ENST00000682064.1:n.885C>G
ENST00000682177.1:c.1385C>G	ENSP00000507409.1:n.1385C>G
ENST00000682235.1:n.681C>G
ENST00000682461.1:c.1448C>G	ENSP00000507308.1:n.1448C>G
ENST00000682653.1:n.1662C>G
ENST00000682657.1:c.*495C>G	ENSP00000507753.1:n.*495C>G
ENST00000682721.1:c.*1145C>G	ENSP00000507535.1:n.*1145C>G
ENST00000682843.1:c.*983C>G	ENSP00000508173.1:n.*983C>G
ENST00000683003.1:c.*495C>G	ENSP00000507576.1:n.*495C>G
ENST00000683133.1:c.1526C>G	ENSP00000508108.1:n.1526C>G
ENST00000683243.1:c.*495C>G	ENSP00000507042.1:n.*495C>G
ENST00000683463.1:c.*147C>G	ENSP00000507986.1:n.*147C>G
ENST00000683548.1:n.1116C>G
ENST00000683579.1:c.*1240C>G	ENSP00000506867.1:n.*1240C>G
ENST00000683587.1:n.1189C>G
ENST00000683681.1:c.1342C>G	ENSP00000508110.1:p.Gln448Glu
ENST00000683735.1:c.*1056C>G	ENSP00000508336.1:n.*1056C>G
ENST00000683853.1:c.*147C>G	ENSP00000506834.1:n.*147C>G
ENST00000683860.1:c.1342C>G	ENSP00000507179.1:p.Gln448Glu
ENST00000683884.1:c.1158C>G	ENSP00000507004.1:p.Ser386Arg
ENST00000684041.1:c.1342C>G	ENSP00000508382.1:p.Gln448Glu
ENST00000684125.1:c.*2C>G	ENSP00000507320.1:n.*2C>G
ENST00000684203.1:n.3107C>G
ENST00000684231.1:c.*752C>G	ENSP00000507748.1:n.*752C>G
ENST00000684263.1:c.*282C>G	ENSP00000508369.1:n.*282C>G
ENST00000684305.1:c.1790C>G	ENSP00000506819.1:n.1790C>G
ENST00000684415.1:c.*209C>G	ENSP00000507227.1:n.*209C>G
ENST00000684520.1:c.1342C>G	ENSP00000506826.1:p.Gln448Glu
ENST00000684602.1:c.*1008C>G	ENSP00000507996.1:n.*1008C>G
ENST00000684667.1:c.1673C>G	ENSP00000507003.1:n.1673C>G
ENST00000268097.10:c.1342C>G MANE Select	ENSP00000268097.6:p.Gln448Glu
ENST00000268097.9:c.1342C>G	ENSP00000268097.5:p.Gln448Glu
ENST00000379915.4:c.424C>G	ENSP00000478716.1:p.Gln142Glu
ENST00000563762.5:c.837C>G	ENSP00000456346.1:n.837C>G
ENST00000566304.5:c.1375C>G	ENSP00000455114.1:p.Gln459Glu
ENST00000566672.5:c.*752C>G	ENSP00000457037.1:n.*752C>G
ENST00000567027.5:c.957C>G
ENST00000567159.5:c.1342C>G	ENSP00000456489.1:p.Gln448Glu
ENST00000567411.5:c.*863C>G	ENSP00000455545.1:n.*863C>G
ENST00000568777.5:n.6562C>G
ENST00000569410.5:c.*147C>G	ENSP00000457125.1:n.*147C>G
NM_000520.4:c.1342C>G	NP_000511.2:p.Gln448Glu
NM_000520.5:c.1342C>G	NP_000511.2:p.Gln448Glu
NM_001318825.1:c.1375C>G	NP_001305754.1:p.Gln459Glu
NR_134869.1:n.1586C>G
NM_000520.6:c.1342C>G MANE Select	NP_000511.2:p.Gln448Glu
NM_001318825.2:c.1375C>G	NP_001305754.1:p.Gln459Glu
NR_134869.2:n.1127C>G
NR_134869.3:n.1127C>G