Canonical Allele Identifier: CA393058705

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637838T>A (hg19) ; chr15:g.72345497T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345497T>A , CM000677.2:g.72345497T>A	GRCh38
NC_000015.9:g.72637838T>A , CM000677.1:g.72637838T>A	GRCh37
NC_000015.8:g.70424892T>A	NCBI36
NG_009017.1:g.35683A>T
NG_009017.2:g.35683A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*135A>T	ENSP00000457521.2:n.*135A>T
ENST00000682061.1:c.*1821A>T	ENSP00000508316.1:n.*1821A>T
ENST00000682064.1:n.1702A>T
ENST00000682177.1:c.1518A>T	ENSP00000507409.1:n.1518A>T
ENST00000682235.1:n.1498A>T
ENST00000682461.1:c.1581A>T	ENSP00000507308.1:n.1581A>T
ENST00000682653.1:n.2479A>T
ENST00000682657.1:c.*1312A>T	ENSP00000507753.1:n.*1312A>T
ENST00000682721.1:c.*1278A>T	ENSP00000507535.1:n.*1278A>T
ENST00000682843.1:c.*1116A>T	ENSP00000508173.1:n.*1116A>T
ENST00000683003.1:c.*1312A>T	ENSP00000507576.1:n.*1312A>T
ENST00000683133.1:c.1659A>T	ENSP00000508108.1:n.1659A>T
ENST00000683243.1:c.*628A>T	ENSP00000507042.1:n.*628A>T
ENST00000683463.1:c.*964A>T	ENSP00000507986.1:n.*964A>T
ENST00000683548.1:n.1933A>T
ENST00000683579.1:c.*1373A>T	ENSP00000506867.1:n.*1373A>T
ENST00000683587.1:n.2006A>T
ENST00000683681.1:c.*153A>T	ENSP00000508110.1:n.*153A>T
ENST00000683735.1:c.*1873A>T	ENSP00000508336.1:n.*1873A>T
ENST00000683853.1:c.*280A>T	ENSP00000506834.1:n.*280A>T
ENST00000683860.1:c.*595A>T	ENSP00000507179.1:n.*595A>T
ENST00000683884.1:c.*802A>T	ENSP00000507004.1:n.*802A>T
ENST00000684041.1:c.*608A>T	ENSP00000508382.1:n.*608A>T
ENST00000684125.1:c.*135A>T	ENSP00000507320.1:n.*135A>T
ENST00000684203.1:n.3924A>T
ENST00000684231.1:c.*885A>T	ENSP00000507748.1:n.*885A>T
ENST00000684263.1:c.*1099A>T	ENSP00000508369.1:n.*1099A>T
ENST00000684305.1:c.1923A>T	ENSP00000506819.1:n.1923A>T
ENST00000684415.1:c.*1026A>T	ENSP00000507227.1:n.*1026A>T
ENST00000684520.1:c.*734A>T	ENSP00000506826.1:n.*734A>T
ENST00000684602.1:c.*1141A>T	ENSP00000507996.1:n.*1141A>T
ENST00000684667.1:c.1806A>T	ENSP00000507003.1:n.1806A>T
ENST00000268097.10:c.1475A>T MANE Select	ENSP00000268097.6:p.Asp492Val
ENST00000268097.9:c.1475A>T	ENSP00000268097.5:p.Asp492Val
ENST00000379915.4:c.557A>T	ENSP00000478716.1:p.Asp186Val
ENST00000564677.5:n.267A>T
ENST00000565873.1:n.386A>T
ENST00000566304.5:c.1508A>T	ENSP00000455114.1:p.Asp503Val
ENST00000567027.5:c.1090A>T
ENST00000567159.5:c.1475A>T	ENSP00000456489.1:p.Asp492Val
ENST00000567411.5:c.*996A>T	ENSP00000455545.1:n.*996A>T
ENST00000568777.5:n.6695A>T
ENST00000569116.1:n.182A>T
NM_000520.4:c.1475A>T	NP_000511.2:p.Asp492Val
NM_000520.5:c.1475A>T	NP_000511.2:p.Asp492Val
NM_001318825.1:c.1508A>T	NP_001305754.1:p.Asp503Val
NR_134869.1:n.1719A>T
NM_000520.6:c.1475A>T MANE Select	NP_000511.2:p.Asp492Val
NM_001318825.2:c.1508A>T	NP_001305754.1:p.Asp503Val
NR_134869.2:n.1260A>T
NR_134869.3:n.1260A>T