Canonical Allele Identifier: CA491111213

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637801G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345460G>T , CM000677.2:g.72345460G>T	GRCh38
NC_000015.9:g.72637801G>T , CM000677.1:g.72637801G>T	GRCh37
NC_000015.8:g.70424855G>T	NCBI36
NG_009017.1:g.35720C>A
NG_009017.2:g.35720C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*172C>A	ENSP00000457521.2:n.*172C>A
ENST00000682061.1:c.*1858C>A	ENSP00000508316.1:n.*1858C>A
ENST00000682064.1:n.1739C>A
ENST00000682177.1:c.1555C>A	ENSP00000507409.1:n.1555C>A
ENST00000682235.1:n.1535C>A
ENST00000682461.1:c.1618C>A	ENSP00000507308.1:n.1618C>A
ENST00000682653.1:n.2516C>A
ENST00000682657.1:c.*1349C>A	ENSP00000507753.1:n.*1349C>A
ENST00000682721.1:c.*1315C>A	ENSP00000507535.1:n.*1315C>A
ENST00000682843.1:c.*1153C>A	ENSP00000508173.1:n.*1153C>A
ENST00000683003.1:c.*1349C>A	ENSP00000507576.1:n.*1349C>A
ENST00000683133.1:c.1696C>A	ENSP00000508108.1:n.1696C>A
ENST00000683243.1:c.*665C>A	ENSP00000507042.1:n.*665C>A
ENST00000683463.1:c.*1001C>A	ENSP00000507986.1:n.*1001C>A
ENST00000683548.1:n.1970C>A
ENST00000683579.1:c.*1410C>A	ENSP00000506867.1:n.*1410C>A
ENST00000683587.1:n.2043C>A
ENST00000683681.1:c.*190C>A	ENSP00000508110.1:n.*190C>A
ENST00000683735.1:c.*1910C>A	ENSP00000508336.1:n.*1910C>A
ENST00000683853.1:c.*317C>A	ENSP00000506834.1:n.*317C>A
ENST00000683860.1:c.*632C>A	ENSP00000507179.1:n.*632C>A
ENST00000683884.1:c.*839C>A	ENSP00000507004.1:n.*839C>A
ENST00000684125.1:c.*172C>A	ENSP00000507320.1:n.*172C>A
ENST00000684203.1:n.3961C>A
ENST00000684231.1:c.*922C>A	ENSP00000507748.1:n.*922C>A
ENST00000684263.1:c.*1136C>A	ENSP00000508369.1:n.*1136C>A
ENST00000684305.1:c.1960C>A	ENSP00000506819.1:n.1960C>A
ENST00000684415.1:c.*1063C>A	ENSP00000507227.1:n.*1063C>A
ENST00000684520.1:c.*771C>A	ENSP00000506826.1:n.*771C>A
ENST00000684602.1:c.*1178C>A	ENSP00000507996.1:n.*1178C>A
ENST00000684667.1:c.1843C>A	ENSP00000507003.1:n.1843C>A
ENST00000268097.10:c.1512C>A MANE Select	ENSP00000268097.6:p.Arg504=
ENST00000268097.9:c.1512C>A	ENSP00000268097.5:p.Arg504=
ENST00000379915.4:c.594C>A	ENSP00000478716.1:p.Arg198=
ENST00000564677.5:n.304C>A
ENST00000565873.1:n.423C>A
ENST00000566304.5:c.1545C>A	ENSP00000455114.1:p.Arg515=
ENST00000567027.5:c.1127C>A
ENST00000567159.5:c.1512C>A	ENSP00000456489.1:p.Arg504=
ENST00000567411.5:c.*1033C>A	ENSP00000455545.1:n.*1033C>A
ENST00000568777.5:n.6732C>A
ENST00000569116.1:n.219C>A
NM_000520.4:c.1512C>A	NP_000511.2:p.Arg504=
NM_000520.5:c.1512C>A	NP_000511.2:p.Arg504=
NM_001318825.1:c.1545C>A	NP_001305754.1:p.Arg515=
NR_134869.1:n.1756C>A
NM_000520.6:c.1512C>A MANE Select	NP_000511.2:p.Arg504=
NM_001318825.2:c.1545C>A	NP_001305754.1:p.Arg515=
NR_134869.2:n.1297C>A
NR_134869.3:n.1297C>A