Canonical Allele Identifier: CA393058681

Gene: HEXA

Linked Data

• ClinVar Variation Id: 1480607
• ClinVar RCV Id: RCV001993980
• dbSNP Id: rs2088600017
• MyVariant Identifiers: chr15:g.72637832G>C (hg19) ; chr15:g.72345491G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345491G>C , CM000677.2:g.72345491G>C	GRCh38
NC_000015.9:g.72637832G>C , CM000677.1:g.72637832G>C	GRCh37
NC_000015.8:g.70424886G>C	NCBI36
NG_009017.1:g.35689C>G
NG_009017.2:g.35689C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*141C>G	ENSP00000457521.2:n.*141C>G
ENST00000682061.1:c.*1827C>G	ENSP00000508316.1:n.*1827C>G
ENST00000682064.1:n.1708C>G
ENST00000682177.1:c.1524C>G	ENSP00000507409.1:n.1524C>G
ENST00000682235.1:n.1504C>G
ENST00000682461.1:c.1587C>G	ENSP00000507308.1:n.1587C>G
ENST00000682653.1:n.2485C>G
ENST00000682657.1:c.*1318C>G	ENSP00000507753.1:n.*1318C>G
ENST00000682721.1:c.*1284C>G	ENSP00000507535.1:n.*1284C>G
ENST00000682843.1:c.*1122C>G	ENSP00000508173.1:n.*1122C>G
ENST00000683003.1:c.*1318C>G	ENSP00000507576.1:n.*1318C>G
ENST00000683133.1:c.1665C>G	ENSP00000508108.1:n.1665C>G
ENST00000683243.1:c.*634C>G	ENSP00000507042.1:n.*634C>G
ENST00000683463.1:c.*970C>G	ENSP00000507986.1:n.*970C>G
ENST00000683548.1:n.1939C>G
ENST00000683579.1:c.*1379C>G	ENSP00000506867.1:n.*1379C>G
ENST00000683587.1:n.2012C>G
ENST00000683681.1:c.*159C>G	ENSP00000508110.1:n.*159C>G
ENST00000683735.1:c.*1879C>G	ENSP00000508336.1:n.*1879C>G
ENST00000683853.1:c.*286C>G	ENSP00000506834.1:n.*286C>G
ENST00000683860.1:c.*601C>G	ENSP00000507179.1:n.*601C>G
ENST00000683884.1:c.*808C>G	ENSP00000507004.1:n.*808C>G
ENST00000684041.1:c.*614C>G	ENSP00000508382.1:n.*614C>G
ENST00000684125.1:c.*141C>G	ENSP00000507320.1:n.*141C>G
ENST00000684203.1:n.3930C>G
ENST00000684231.1:c.*891C>G	ENSP00000507748.1:n.*891C>G
ENST00000684263.1:c.*1105C>G	ENSP00000508369.1:n.*1105C>G
ENST00000684305.1:c.1929C>G	ENSP00000506819.1:n.1929C>G
ENST00000684415.1:c.*1032C>G	ENSP00000507227.1:n.*1032C>G
ENST00000684520.1:c.*740C>G	ENSP00000506826.1:n.*740C>G
ENST00000684602.1:c.*1147C>G	ENSP00000507996.1:n.*1147C>G
ENST00000684667.1:c.1812C>G	ENSP00000507003.1:n.1812C>G
ENST00000268097.10:c.1481C>G MANE Select	ENSP00000268097.6:p.Thr494Arg
ENST00000268097.9:c.1481C>G	ENSP00000268097.5:p.Thr494Arg
ENST00000379915.4:c.563C>G	ENSP00000478716.1:p.Thr188Arg
ENST00000564677.5:n.273C>G
ENST00000565873.1:n.392C>G
ENST00000566304.5:c.1514C>G	ENSP00000455114.1:p.Thr505Arg
ENST00000567027.5:c.1096C>G
ENST00000567159.5:c.1481C>G	ENSP00000456489.1:p.Thr494Arg
ENST00000567411.5:c.*1002C>G	ENSP00000455545.1:n.*1002C>G
ENST00000568777.5:n.6701C>G
ENST00000569116.1:n.188C>G
NM_000520.4:c.1481C>G	NP_000511.2:p.Thr494Arg
NM_000520.5:c.1481C>G	NP_000511.2:p.Thr494Arg
NM_001318825.1:c.1514C>G	NP_001305754.1:p.Thr505Arg
NR_134869.1:n.1725C>G
NM_000520.6:c.1481C>G MANE Select	NP_000511.2:p.Thr494Arg
NM_001318825.2:c.1514C>G	NP_001305754.1:p.Thr505Arg
NR_134869.2:n.1266C>G
NR_134869.3:n.1266C>G