Canonical Allele Identifier: CA491116676

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638841T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346500T>A , CM000677.2:g.72346500T>A	GRCh38
NC_000015.9:g.72638841T>A , CM000677.1:g.72638841T>A	GRCh37
NC_000015.8:g.70425895T>A	NCBI36
NG_009017.1:g.34680A>T
NG_009017.2:g.34680A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.1074-175A>T	ENSP00000457521.2:n.1074-175A>T
ENST00000682061.1:c.*992+27A>T	ENSP00000508316.1:n.*992+27A>T
ENST00000682064.1:n.699A>T
ENST00000682177.1:c.1373+27A>T	ENSP00000507409.1:n.1373+27A>T
ENST00000682235.1:n.669+27A>T
ENST00000682461.1:c.1436+27A>T	ENSP00000507308.1:n.1436+27A>T
ENST00000682653.1:n.1650+27A>T
ENST00000682657.1:c.*484-175A>T	ENSP00000507753.1:n.*484-175A>T
ENST00000682721.1:c.*1133+27A>T	ENSP00000507535.1:n.*1133+27A>T
ENST00000682843.1:c.*972-175A>T	ENSP00000508173.1:n.*972-175A>T
ENST00000683003.1:c.*484-175A>T	ENSP00000507576.1:n.*484-175A>T
ENST00000683133.1:c.1514+27A>T	ENSP00000508108.1:n.1514+27A>T
ENST00000683243.1:c.*484-175A>T	ENSP00000507042.1:n.*484-175A>T
ENST00000683463.1:c.*135+27A>T	ENSP00000507986.1:n.*135+27A>T
ENST00000683548.1:n.1105-175A>T
ENST00000683579.1:c.*1228+27A>T	ENSP00000506867.1:n.*1228+27A>T
ENST00000683587.1:n.1178-175A>T
ENST00000683681.1:c.1330+27A>T	ENSP00000508110.1:n.1330+27A>T
ENST00000683735.1:c.*1045-175A>T	ENSP00000508336.1:n.*1045-175A>T
ENST00000683853.1:c.*135+27A>T	ENSP00000506834.1:n.*135+27A>T
ENST00000683860.1:c.1330+27A>T	ENSP00000507179.1:n.1330+27A>T
ENST00000683884.1:c.1147-175A>T	ENSP00000507004.1:n.1147-175A>T
ENST00000684041.1:c.1330+27A>T	ENSP00000508382.1:n.1330+27A>T
ENST00000684125.1:c.1074-175A>T	ENSP00000507320.1:n.1074-175A>T
ENST00000684203.1:n.3095+27A>T
ENST00000684231.1:c.*740+27A>T	ENSP00000507748.1:n.*740+27A>T
ENST00000684263.1:c.*270+27A>T	ENSP00000508369.1:n.*270+27A>T
ENST00000684305.1:c.1778+27A>T	ENSP00000506819.1:n.1778+27A>T
ENST00000684415.1:c.*197+27A>T	ENSP00000507227.1:n.*197+27A>T
ENST00000684520.1:c.1330+27A>T	ENSP00000506826.1:n.1330+27A>T
ENST00000684602.1:c.*996+27A>T	ENSP00000507996.1:n.*996+27A>T
ENST00000684667.1:c.1661+27A>T	ENSP00000507003.1:n.1661+27A>T
ENST00000268097.10:c.1330+27A>T MANE Select	ENSP00000268097.6:n.1330+27A>T
ENST00000268097.9:c.1330+27A>T	ENSP00000268097.5:n.1330+27A>T
ENST00000379915.4:c.413-175A>T	ENSP00000478716.1:n.413-175A>T
ENST00000563762.5:c.826-175A>T	ENSP00000456346.1:n.826-175A>T
ENST00000566304.5:c.1363+27A>T	ENSP00000455114.1:n.1363+27A>T
ENST00000566672.5:c.*740+27A>T	ENSP00000457037.1:n.*740+27A>T
ENST00000567027.5:c.946-175A>T
ENST00000567159.5:c.1330+27A>T	ENSP00000456489.1:n.1330+27A>T
ENST00000567411.5:c.*851+27A>T	ENSP00000455545.1:n.*851+27A>T
ENST00000568777.5:n.6551-175A>T
ENST00000569410.5:c.*135+27A>T	ENSP00000457125.1:n.*135+27A>T
NM_000520.4:c.1330+27A>T	NP_000511.2:n.1330+27A>T
NM_000520.5:c.1330+27A>T	NP_000511.2:n.1330+27A>T
NM_001318825.1:c.1363+27A>T	NP_001305754.1:n.1363+27A>T
NR_134869.1:n.1575-175A>T
NM_000520.6:c.1330+27A>T MANE Select	NP_000511.2:n.1330+27A>T
NM_001318825.2:c.1363+27A>T	NP_001305754.1:n.1363+27A>T
NR_134869.2:n.1116-175A>T
NR_134869.3:n.1116-175A>T