Canonical Allele Identifier: CA393061878

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72640414G>C (hg19) ; chr15:g.72348073G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72348073G>C , CM000677.2:g.72348073G>C	GRCh38
NC_000015.9:g.72640414G>C , CM000677.1:g.72640414G>C	GRCh37
NC_000015.8:g.70427468G>C	NCBI36
NG_009017.1:g.33107C>G
NG_009017.2:g.33107C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3394C>G
ENST00000567027.6:c.1048C>G	ENSP00000457521.2:p.Gln350Glu
ENST00000682061.1:c.*710C>G	ENSP00000508316.1:n.*710C>G
ENST00000682177.1:c.1091C>G	ENSP00000507409.1:n.1091C>G
ENST00000682461.1:c.1154C>G	ENSP00000507308.1:n.1154C>G
ENST00000682653.1:n.1079C>G
ENST00000682657.1:c.*458C>G	ENSP00000507753.1:n.*458C>G
ENST00000682721.1:c.*851C>G	ENSP00000507535.1:n.*851C>G
ENST00000682843.1:c.*946C>G	ENSP00000508173.1:n.*946C>G
ENST00000683003.1:c.*458C>G	ENSP00000507576.1:n.*458C>G
ENST00000683133.1:c.1232C>G	ENSP00000508108.1:n.1232C>G
ENST00000683228.1:n.1079C>G
ENST00000683243.1:c.*458C>G	ENSP00000507042.1:n.*458C>G
ENST00000683463.1:c.1048C>G	ENSP00000507986.1:p.Gln350Glu
ENST00000683548.1:n.1079C>G
ENST00000683579.1:c.*946C>G	ENSP00000506867.1:n.*946C>G
ENST00000683587.1:n.1079C>G
ENST00000683681.1:c.1048C>G	ENSP00000508110.1:p.Gln350Glu
ENST00000683735.1:c.*946C>G	ENSP00000508336.1:n.*946C>G
ENST00000683742.1:n.879C>G
ENST00000683853.1:c.1048C>G	ENSP00000506834.1:p.Gln350Glu
ENST00000683860.1:c.1048C>G	ENSP00000507179.1:p.Gln350Glu
ENST00000683884.1:c.1048C>G	ENSP00000507004.1:p.Gln350Glu
ENST00000684041.1:c.1048C>G	ENSP00000508382.1:p.Gln350Glu
ENST00000684125.1:c.1048C>G	ENSP00000507320.1:p.Gln350Glu
ENST00000684203.1:n.2886C>G
ENST00000684231.1:c.*458C>G	ENSP00000507748.1:n.*458C>G
ENST00000684263.1:c.1048C>G	ENSP00000508369.1:p.Gln350Glu
ENST00000684305.1:c.1496C>G	ENSP00000506819.1:n.1496C>G
ENST00000684415.1:c.1048C>G	ENSP00000507227.1:p.Gln350Glu
ENST00000684520.1:c.1048C>G	ENSP00000506826.1:p.Gln350Glu
ENST00000684602.1:c.*714C>G	ENSP00000507996.1:n.*714C>G
ENST00000684667.1:c.1379C>G	ENSP00000507003.1:n.1379C>G
ENST00000268097.10:c.1048C>G MANE Select	ENSP00000268097.6:p.Gln350Glu
ENST00000268097.9:c.1048C>G	ENSP00000268097.5:p.Gln350Glu
ENST00000379915.4:c.413-1748C>G	ENSP00000478716.1:n.413-1748C>G
ENST00000563762.5:c.800C>G	ENSP00000456346.1:n.800C>G
ENST00000566304.5:c.1081C>G	ENSP00000455114.1:p.Gln361Glu
ENST00000566672.5:c.*458C>G	ENSP00000457037.1:n.*458C>G
ENST00000567027.5:c.920C>G
ENST00000567159.5:c.1048C>G	ENSP00000456489.1:p.Gln350Glu
ENST00000567411.5:c.*569C>G	ENSP00000455545.1:n.*569C>G
ENST00000568777.5:n.6452C>G
ENST00000569410.5:c.1048C>G	ENSP00000457125.1:p.Gln350Glu
NM_000520.4:c.1048C>G	NP_000511.2:p.Gln350Glu
NM_000520.5:c.1048C>G	NP_000511.2:p.Gln350Glu
NM_001318825.1:c.1081C>G	NP_001305754.1:p.Gln361Glu
NR_134869.1:n.1549C>G
NM_000520.6:c.1048C>G MANE Select	NP_000511.2:p.Gln350Glu
NM_001318825.2:c.1081C>G	NP_001305754.1:p.Gln361Glu
NR_134869.2:n.1090C>G
NR_134869.3:n.1090C>G