Canonical Allele Identifier: CA491111666

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637870G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345529G>T , CM000677.2:g.72345529G>T	GRCh38
NC_000015.9:g.72637870G>T , CM000677.1:g.72637870G>T	GRCh37
NC_000015.8:g.70424924G>T	NCBI36
NG_009017.1:g.35651C>A
NG_009017.2:g.35651C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*103C>A	ENSP00000457521.2:n.*103C>A
ENST00000682061.1:c.*1789C>A	ENSP00000508316.1:n.*1789C>A
ENST00000682064.1:n.1670C>A
ENST00000682177.1:c.1486C>A	ENSP00000507409.1:n.1486C>A
ENST00000682235.1:n.1466C>A
ENST00000682461.1:c.1549C>A	ENSP00000507308.1:n.1549C>A
ENST00000682653.1:n.2447C>A
ENST00000682657.1:c.*1280C>A	ENSP00000507753.1:n.*1280C>A
ENST00000682721.1:c.*1246C>A	ENSP00000507535.1:n.*1246C>A
ENST00000682843.1:c.*1084C>A	ENSP00000508173.1:n.*1084C>A
ENST00000683003.1:c.*1280C>A	ENSP00000507576.1:n.*1280C>A
ENST00000683133.1:c.1627C>A	ENSP00000508108.1:n.1627C>A
ENST00000683243.1:c.*596C>A	ENSP00000507042.1:n.*596C>A
ENST00000683463.1:c.*932C>A	ENSP00000507986.1:n.*932C>A
ENST00000683548.1:n.1901C>A
ENST00000683579.1:c.*1341C>A	ENSP00000506867.1:n.*1341C>A
ENST00000683587.1:n.1974C>A
ENST00000683681.1:c.*121C>A	ENSP00000508110.1:n.*121C>A
ENST00000683735.1:c.*1841C>A	ENSP00000508336.1:n.*1841C>A
ENST00000683853.1:c.*248C>A	ENSP00000506834.1:n.*248C>A
ENST00000683860.1:c.*563C>A	ENSP00000507179.1:n.*563C>A
ENST00000683884.1:c.*770C>A	ENSP00000507004.1:n.*770C>A
ENST00000684041.1:c.*576C>A	ENSP00000508382.1:n.*576C>A
ENST00000684125.1:c.*103C>A	ENSP00000507320.1:n.*103C>A
ENST00000684203.1:n.3892C>A
ENST00000684231.1:c.*853C>A	ENSP00000507748.1:n.*853C>A
ENST00000684263.1:c.*1067C>A	ENSP00000508369.1:n.*1067C>A
ENST00000684305.1:c.1891C>A	ENSP00000506819.1:n.1891C>A
ENST00000684415.1:c.*994C>A	ENSP00000507227.1:n.*994C>A
ENST00000684520.1:c.*702C>A	ENSP00000506826.1:n.*702C>A
ENST00000684602.1:c.*1109C>A	ENSP00000507996.1:n.*1109C>A
ENST00000684667.1:c.1774C>A	ENSP00000507003.1:n.1774C>A
ENST00000268097.10:c.1443C>A MANE Select	ENSP00000268097.6:p.Ala481=
ENST00000268097.9:c.1443C>A	ENSP00000268097.5:p.Ala481=
ENST00000379915.4:c.525C>A	ENSP00000478716.1:p.Ala175=
ENST00000564677.5:n.235C>A
ENST00000565873.1:n.354C>A
ENST00000566304.5:c.1476C>A	ENSP00000455114.1:p.Ala492=
ENST00000567027.5:c.1058C>A
ENST00000567159.5:c.1443C>A	ENSP00000456489.1:p.Ala481=
ENST00000567411.5:c.*964C>A	ENSP00000455545.1:n.*964C>A
ENST00000568777.5:n.6663C>A
ENST00000569116.1:n.150C>A
NM_000520.4:c.1443C>A	NP_000511.2:p.Ala481=
NM_000520.5:c.1443C>A	NP_000511.2:p.Ala481=
NM_001318825.1:c.1476C>A	NP_001305754.1:p.Ala492=
NR_134869.1:n.1687C>A
NM_000520.6:c.1443C>A MANE Select	NP_000511.2:p.Ala481=
NM_001318825.2:c.1476C>A	NP_001305754.1:p.Ala492=
NR_134869.2:n.1228C>A
NR_134869.3:n.1228C>A