Canonical Allele Identifier: CA491116232

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638765T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346424T>G , CM000677.2:g.72346424T>G	GRCh38
NC_000015.9:g.72638765T>G , CM000677.1:g.72638765T>G	GRCh37
NC_000015.8:g.70425819T>G	NCBI36
NG_009017.1:g.34756A>C
NG_009017.2:g.34756A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.1074-99A>C	ENSP00000457521.2:n.1074-99A>C
ENST00000682061.1:c.*993-99A>C	ENSP00000508316.1:n.*993-99A>C
ENST00000682064.1:n.775A>C
ENST00000682177.1:c.1374-99A>C	ENSP00000507409.1:n.1374-99A>C
ENST00000682235.1:n.670-99A>C
ENST00000682461.1:c.1437-99A>C	ENSP00000507308.1:n.1437-99A>C
ENST00000682653.1:n.1651-99A>C
ENST00000682657.1:c.*484-99A>C	ENSP00000507753.1:n.*484-99A>C
ENST00000682721.1:c.*1134-99A>C	ENSP00000507535.1:n.*1134-99A>C
ENST00000682843.1:c.*972-99A>C	ENSP00000508173.1:n.*972-99A>C
ENST00000683003.1:c.*484-99A>C	ENSP00000507576.1:n.*484-99A>C
ENST00000683133.1:c.1515-99A>C	ENSP00000508108.1:n.1515-99A>C
ENST00000683243.1:c.*484-99A>C	ENSP00000507042.1:n.*484-99A>C
ENST00000683463.1:c.*136-99A>C	ENSP00000507986.1:n.*136-99A>C
ENST00000683548.1:n.1105-99A>C
ENST00000683579.1:c.*1229-99A>C	ENSP00000506867.1:n.*1229-99A>C
ENST00000683587.1:n.1178-99A>C
ENST00000683681.1:c.1331-99A>C	ENSP00000508110.1:n.1331-99A>C
ENST00000683735.1:c.*1045-99A>C	ENSP00000508336.1:n.*1045-99A>C
ENST00000683853.1:c.*136-99A>C	ENSP00000506834.1:n.*136-99A>C
ENST00000683860.1:c.1331-99A>C	ENSP00000507179.1:n.1331-99A>C
ENST00000683884.1:c.1147-99A>C	ENSP00000507004.1:n.1147-99A>C
ENST00000684041.1:c.1331-99A>C	ENSP00000508382.1:n.1331-99A>C
ENST00000684125.1:c.1074-99A>C	ENSP00000507320.1:n.1074-99A>C
ENST00000684203.1:n.3096-99A>C
ENST00000684231.1:c.*741-99A>C	ENSP00000507748.1:n.*741-99A>C
ENST00000684263.1:c.*271-99A>C	ENSP00000508369.1:n.*271-99A>C
ENST00000684305.1:c.1779-99A>C	ENSP00000506819.1:n.1779-99A>C
ENST00000684415.1:c.*198-99A>C	ENSP00000507227.1:n.*198-99A>C
ENST00000684520.1:c.1331-99A>C	ENSP00000506826.1:n.1331-99A>C
ENST00000684602.1:c.*997-99A>C	ENSP00000507996.1:n.*997-99A>C
ENST00000684667.1:c.1662-99A>C	ENSP00000507003.1:n.1662-99A>C
ENST00000268097.10:c.1331-99A>C MANE Select	ENSP00000268097.6:n.1331-99A>C
ENST00000268097.9:c.1331-99A>C	ENSP00000268097.5:n.1331-99A>C
ENST00000379915.4:c.413-99A>C	ENSP00000478716.1:n.413-99A>C
ENST00000563762.5:c.826-99A>C	ENSP00000456346.1:n.826-99A>C
ENST00000566304.5:c.1364-99A>C	ENSP00000455114.1:n.1364-99A>C
ENST00000566672.5:c.*741-99A>C	ENSP00000457037.1:n.*741-99A>C
ENST00000567027.5:c.946-99A>C
ENST00000567159.5:c.1331-99A>C	ENSP00000456489.1:n.1331-99A>C
ENST00000567411.5:c.*852-99A>C	ENSP00000455545.1:n.*852-99A>C
ENST00000568777.5:n.6551-99A>C
ENST00000569410.5:c.*136-99A>C	ENSP00000457125.1:n.*136-99A>C
NM_000520.4:c.1331-99A>C	NP_000511.2:n.1331-99A>C
NM_000520.5:c.1331-99A>C	NP_000511.2:n.1331-99A>C
NM_001318825.1:c.1364-99A>C	NP_001305754.1:n.1364-99A>C
NR_134869.1:n.1575-99A>C
NM_000520.6:c.1331-99A>C MANE Select	NP_000511.2:n.1331-99A>C
NM_001318825.2:c.1364-99A>C	NP_001305754.1:n.1364-99A>C
NR_134869.2:n.1116-99A>C
NR_134869.3:n.1116-99A>C