Canonical Allele Identifier: CA491118604

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72640039A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347698A>G , CM000677.2:g.72347698A>G	GRCh38
NC_000015.9:g.72640039A>G , CM000677.1:g.72640039A>G	GRCh37
NC_000015.8:g.70427093A>G	NCBI36
NG_009017.1:g.33482T>C
NG_009017.2:g.33482T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.1073+350T>C	ENSP00000457521.2:n.1073+350T>C
ENST00000682061.1:c.*796T>C	ENSP00000508316.1:n.*796T>C
ENST00000682177.1:c.1177T>C	ENSP00000507409.1:n.1177T>C
ENST00000682461.1:c.1240T>C	ENSP00000507308.1:n.1240T>C
ENST00000682653.1:n.1454T>C
ENST00000682657.1:c.*483+350T>C	ENSP00000507753.1:n.*483+350T>C
ENST00000682721.1:c.*937T>C	ENSP00000507535.1:n.*937T>C
ENST00000682843.1:c.*971+350T>C	ENSP00000508173.1:n.*971+350T>C
ENST00000683003.1:c.*483+350T>C	ENSP00000507576.1:n.*483+350T>C
ENST00000683133.1:c.1318T>C	ENSP00000508108.1:n.1318T>C
ENST00000683228.1:n.1165T>C
ENST00000683243.1:c.*483+350T>C	ENSP00000507042.1:n.*483+350T>C
ENST00000683463.1:c.1073+350T>C	ENSP00000507986.1:n.1073+350T>C
ENST00000683548.1:n.1104+350T>C
ENST00000683579.1:c.*1032T>C	ENSP00000506867.1:n.*1032T>C
ENST00000683587.1:n.1165T>C
ENST00000683681.1:c.1134T>C	ENSP00000508110.1:p.Asp378=
ENST00000683735.1:c.*1032T>C	ENSP00000508336.1:n.*1032T>C
ENST00000683742.1:n.965T>C
ENST00000683853.1:c.1073+350T>C	ENSP00000506834.1:n.1073+350T>C
ENST00000683860.1:c.1134T>C	ENSP00000507179.1:p.Asp378=
ENST00000683884.1:c.1134T>C	ENSP00000507004.1:p.Asp378=
ENST00000684041.1:c.1134T>C	ENSP00000508382.1:p.Asp378=
ENST00000684125.1:c.1073+350T>C	ENSP00000507320.1:n.1073+350T>C
ENST00000684203.1:n.2911+350T>C
ENST00000684231.1:c.*544T>C	ENSP00000507748.1:n.*544T>C
ENST00000684263.1:c.*74T>C	ENSP00000508369.1:n.*74T>C
ENST00000684305.1:c.1582T>C	ENSP00000506819.1:n.1582T>C
ENST00000684415.1:c.*13+333T>C	ENSP00000507227.1:n.*13+333T>C
ENST00000684520.1:c.1134T>C	ENSP00000506826.1:p.Asp378=
ENST00000684602.1:c.*800T>C	ENSP00000507996.1:n.*800T>C
ENST00000684667.1:c.1465T>C	ENSP00000507003.1:n.1465T>C
ENST00000268097.10:c.1134T>C MANE Select	ENSP00000268097.6:p.Asp378=
ENST00000268097.9:c.1134T>C	ENSP00000268097.5:p.Asp378=
ENST00000379915.4:c.413-1373T>C	ENSP00000478716.1:n.413-1373T>C
ENST00000563762.5:c.825+350T>C	ENSP00000456346.1:n.825+350T>C
ENST00000566304.5:c.1167T>C	ENSP00000455114.1:p.Asp389=
ENST00000566672.5:c.*544T>C	ENSP00000457037.1:n.*544T>C
ENST00000567027.5:c.945+350T>C
ENST00000567159.5:c.1134T>C	ENSP00000456489.1:p.Asp378=
ENST00000567411.5:c.*655T>C	ENSP00000455545.1:n.*655T>C
ENST00000568777.5:n.6538T>C
ENST00000569410.5:c.1073+350T>C	ENSP00000457125.1:n.1073+350T>C
NM_000520.4:c.1134T>C	NP_000511.2:p.Asp378=
NM_000520.5:c.1134T>C	NP_000511.2:p.Asp378=
NM_001318825.1:c.1167T>C	NP_001305754.1:p.Asp389=
NR_134869.1:n.1574+350T>C
NM_000520.6:c.1134T>C MANE Select	NP_000511.2:p.Asp378=
NM_001318825.2:c.1167T>C	NP_001305754.1:p.Asp389=
NR_134869.2:n.1115+350T>C
NR_134869.3:n.1115+350T>C