Canonical Allele Identifier: CA491111715

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637879C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345538C>A , CM000677.2:g.72345538C>A	GRCh38
NC_000015.9:g.72637879C>A , CM000677.1:g.72637879C>A	GRCh37
NC_000015.8:g.70424933C>A	NCBI36
NG_009017.1:g.35642G>T
NG_009017.2:g.35642G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*94G>T	ENSP00000457521.2:n.*94G>T
ENST00000682061.1:c.*1780G>T	ENSP00000508316.1:n.*1780G>T
ENST00000682064.1:n.1661G>T
ENST00000682177.1:c.1477G>T	ENSP00000507409.1:n.1477G>T
ENST00000682235.1:n.1457G>T
ENST00000682461.1:c.1540G>T	ENSP00000507308.1:n.1540G>T
ENST00000682653.1:n.2438G>T
ENST00000682657.1:c.*1271G>T	ENSP00000507753.1:n.*1271G>T
ENST00000682721.1:c.*1237G>T	ENSP00000507535.1:n.*1237G>T
ENST00000682843.1:c.*1075G>T	ENSP00000508173.1:n.*1075G>T
ENST00000683003.1:c.*1271G>T	ENSP00000507576.1:n.*1271G>T
ENST00000683133.1:c.1618G>T	ENSP00000508108.1:n.1618G>T
ENST00000683243.1:c.*587G>T	ENSP00000507042.1:n.*587G>T
ENST00000683463.1:c.*923G>T	ENSP00000507986.1:n.*923G>T
ENST00000683548.1:n.1892G>T
ENST00000683579.1:c.*1332G>T	ENSP00000506867.1:n.*1332G>T
ENST00000683587.1:n.1965G>T
ENST00000683681.1:c.*112G>T	ENSP00000508110.1:n.*112G>T
ENST00000683735.1:c.*1832G>T	ENSP00000508336.1:n.*1832G>T
ENST00000683853.1:c.*239G>T	ENSP00000506834.1:n.*239G>T
ENST00000683860.1:c.*554G>T	ENSP00000507179.1:n.*554G>T
ENST00000683884.1:c.*761G>T	ENSP00000507004.1:n.*761G>T
ENST00000684041.1:c.*567G>T	ENSP00000508382.1:n.*567G>T
ENST00000684125.1:c.*94G>T	ENSP00000507320.1:n.*94G>T
ENST00000684203.1:n.3883G>T
ENST00000684231.1:c.*844G>T	ENSP00000507748.1:n.*844G>T
ENST00000684263.1:c.*1058G>T	ENSP00000508369.1:n.*1058G>T
ENST00000684305.1:c.1882G>T	ENSP00000506819.1:n.1882G>T
ENST00000684415.1:c.*985G>T	ENSP00000507227.1:n.*985G>T
ENST00000684520.1:c.*693G>T	ENSP00000506826.1:n.*693G>T
ENST00000684602.1:c.*1100G>T	ENSP00000507996.1:n.*1100G>T
ENST00000684667.1:c.1765G>T	ENSP00000507003.1:n.1765G>T
ENST00000268097.10:c.1434G>T MANE Select	ENSP00000268097.6:p.Gly478=
ENST00000268097.9:c.1434G>T	ENSP00000268097.5:p.Gly478=
ENST00000379915.4:c.516G>T	ENSP00000478716.1:p.Gly172=
ENST00000564677.5:n.226G>T
ENST00000565873.1:n.345G>T
ENST00000566304.5:c.1467G>T	ENSP00000455114.1:p.Gly489=
ENST00000567027.5:c.1049G>T
ENST00000567159.5:c.1434G>T	ENSP00000456489.1:p.Gly478=
ENST00000567411.5:c.*955G>T	ENSP00000455545.1:n.*955G>T
ENST00000568777.5:n.6654G>T
ENST00000569116.1:n.141G>T
NM_000520.4:c.1434G>T	NP_000511.2:p.Gly478=
NM_000520.5:c.1434G>T	NP_000511.2:p.Gly478=
NM_001318825.1:c.1467G>T	NP_001305754.1:p.Gly489=
NR_134869.1:n.1678G>T
NM_000520.6:c.1434G>T MANE Select	NP_000511.2:p.Gly478=
NM_001318825.2:c.1467G>T	NP_001305754.1:p.Gly489=
NR_134869.2:n.1219G>T
NR_134869.3:n.1219G>T