Canonical Allele Identifier: CA491111630

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637864C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345523C>T , CM000677.2:g.72345523C>T	GRCh38
NC_000015.9:g.72637864C>T , CM000677.1:g.72637864C>T	GRCh37
NC_000015.8:g.70424918C>T	NCBI36
NG_009017.1:g.35657G>A
NG_009017.2:g.35657G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*109G>A	ENSP00000457521.2:n.*109G>A
ENST00000682061.1:c.*1795G>A	ENSP00000508316.1:n.*1795G>A
ENST00000682064.1:n.1676G>A
ENST00000682177.1:c.1492G>A	ENSP00000507409.1:n.1492G>A
ENST00000682235.1:n.1472G>A
ENST00000682461.1:c.1555G>A	ENSP00000507308.1:n.1555G>A
ENST00000682653.1:n.2453G>A
ENST00000682657.1:c.*1286G>A	ENSP00000507753.1:n.*1286G>A
ENST00000682721.1:c.*1252G>A	ENSP00000507535.1:n.*1252G>A
ENST00000682843.1:c.*1090G>A	ENSP00000508173.1:n.*1090G>A
ENST00000683003.1:c.*1286G>A	ENSP00000507576.1:n.*1286G>A
ENST00000683133.1:c.1633G>A	ENSP00000508108.1:n.1633G>A
ENST00000683243.1:c.*602G>A	ENSP00000507042.1:n.*602G>A
ENST00000683463.1:c.*938G>A	ENSP00000507986.1:n.*938G>A
ENST00000683548.1:n.1907G>A
ENST00000683579.1:c.*1347G>A	ENSP00000506867.1:n.*1347G>A
ENST00000683587.1:n.1980G>A
ENST00000683681.1:c.*127G>A	ENSP00000508110.1:n.*127G>A
ENST00000683735.1:c.*1847G>A	ENSP00000508336.1:n.*1847G>A
ENST00000683853.1:c.*254G>A	ENSP00000506834.1:n.*254G>A
ENST00000683860.1:c.*569G>A	ENSP00000507179.1:n.*569G>A
ENST00000683884.1:c.*776G>A	ENSP00000507004.1:n.*776G>A
ENST00000684041.1:c.*582G>A	ENSP00000508382.1:n.*582G>A
ENST00000684125.1:c.*109G>A	ENSP00000507320.1:n.*109G>A
ENST00000684203.1:n.3898G>A
ENST00000684231.1:c.*859G>A	ENSP00000507748.1:n.*859G>A
ENST00000684263.1:c.*1073G>A	ENSP00000508369.1:n.*1073G>A
ENST00000684305.1:c.1897G>A	ENSP00000506819.1:n.1897G>A
ENST00000684415.1:c.*1000G>A	ENSP00000507227.1:n.*1000G>A
ENST00000684520.1:c.*708G>A	ENSP00000506826.1:n.*708G>A
ENST00000684602.1:c.*1115G>A	ENSP00000507996.1:n.*1115G>A
ENST00000684667.1:c.1780G>A	ENSP00000507003.1:n.1780G>A
ENST00000268097.10:c.1449G>A MANE Select	ENSP00000268097.6:p.Arg483=
ENST00000268097.9:c.1449G>A	ENSP00000268097.5:p.Arg483=
ENST00000379915.4:c.531G>A	ENSP00000478716.1:p.Arg177=
ENST00000564677.5:n.241G>A
ENST00000565873.1:n.360G>A
ENST00000566304.5:c.1482G>A	ENSP00000455114.1:p.Arg494=
ENST00000567027.5:c.1064G>A
ENST00000567159.5:c.1449G>A	ENSP00000456489.1:p.Arg483=
ENST00000567411.5:c.*970G>A	ENSP00000455545.1:n.*970G>A
ENST00000568777.5:n.6669G>A
ENST00000569116.1:n.156G>A
NM_000520.4:c.1449G>A	NP_000511.2:p.Arg483=
NM_000520.5:c.1449G>A	NP_000511.2:p.Arg483=
NM_001318825.1:c.1482G>A	NP_001305754.1:p.Arg494=
NR_134869.1:n.1693G>A
NM_000520.6:c.1449G>A MANE Select	NP_000511.2:p.Arg483=
NM_001318825.2:c.1482G>A	NP_001305754.1:p.Arg494=
NR_134869.2:n.1234G>A
NR_134869.3:n.1234G>A