Canonical Allele Identifier: CA491122612

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72642875A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72350534A>C , CM000677.2:g.72350534A>C	GRCh38
NC_000015.9:g.72642875A>C , CM000677.1:g.72642875A>C	GRCh37
NC_000015.8:g.70429929A>C	NCBI36
NG_009017.1:g.30646T>G
NG_009017.2:g.30646T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.3135T>G
ENST00000567027.6:c.789T>G	ENSP00000457521.2:p.Thr263=
ENST00000682061.1:c.*451T>G	ENSP00000508316.1:n.*451T>G
ENST00000682177.1:c.832T>G	ENSP00000507409.1:n.832T>G
ENST00000682461.1:c.895T>G	ENSP00000507308.1:n.895T>G
ENST00000682653.1:n.820T>G
ENST00000682657.1:c.*199T>G	ENSP00000507753.1:n.*199T>G
ENST00000682721.1:c.*592T>G	ENSP00000507535.1:n.*592T>G
ENST00000682843.1:c.*687T>G	ENSP00000508173.1:n.*687T>G
ENST00000683003.1:c.*199T>G	ENSP00000507576.1:n.*199T>G
ENST00000683133.1:c.973T>G	ENSP00000508108.1:n.973T>G
ENST00000683228.1:n.820T>G
ENST00000683243.1:c.*199T>G	ENSP00000507042.1:n.*199T>G
ENST00000683463.1:c.789T>G	ENSP00000507986.1:p.Thr263=
ENST00000683548.1:n.820T>G
ENST00000683579.1:c.*687T>G	ENSP00000506867.1:n.*687T>G
ENST00000683587.1:n.820T>G
ENST00000683681.1:c.789T>G	ENSP00000508110.1:p.Thr263=
ENST00000683735.1:c.*687T>G	ENSP00000508336.1:n.*687T>G
ENST00000683742.1:n.620T>G
ENST00000683853.1:c.789T>G	ENSP00000506834.1:p.Thr263=
ENST00000683860.1:c.789T>G	ENSP00000507179.1:p.Thr263=
ENST00000683884.1:c.789T>G	ENSP00000507004.1:p.Thr263=
ENST00000684041.1:c.789T>G	ENSP00000508382.1:p.Thr263=
ENST00000684125.1:c.789T>G	ENSP00000507320.1:p.Thr263=
ENST00000684203.1:n.2627T>G
ENST00000684231.1:c.*199T>G	ENSP00000507748.1:n.*199T>G
ENST00000684263.1:c.789T>G	ENSP00000508369.1:p.Thr263=
ENST00000684305.1:c.1237T>G	ENSP00000506819.1:n.1237T>G
ENST00000684415.1:c.789T>G	ENSP00000507227.1:p.Thr263=
ENST00000684520.1:c.789T>G	ENSP00000506826.1:p.Thr263=
ENST00000684602.1:c.*455T>G	ENSP00000507996.1:n.*455T>G
ENST00000684667.1:c.1120T>G	ENSP00000507003.1:n.1120T>G
ENST00000268097.10:c.789T>G MANE Select	ENSP00000268097.6:p.Thr263=
ENST00000268097.9:c.789T>G	ENSP00000268097.5:p.Thr263=
ENST00000379915.4:c.413-4209T>G	ENSP00000478716.1:n.413-4209T>G
ENST00000563762.5:c.722T>G	ENSP00000456346.1:n.722T>G
ENST00000566304.5:c.822T>G	ENSP00000455114.1:p.Thr274=
ENST00000566672.5:c.*199T>G	ENSP00000457037.1:n.*199T>G
ENST00000567027.5:c.661T>G
ENST00000567159.5:c.789T>G	ENSP00000456489.1:p.Thr263=
ENST00000567411.5:c.*310T>G	ENSP00000455545.1:n.*310T>G
ENST00000568777.5:n.6193T>G
ENST00000569410.5:c.789T>G	ENSP00000457125.1:p.Thr263=
NM_000520.4:c.789T>G	NP_000511.2:p.Thr263=
NM_000520.5:c.789T>G	NP_000511.2:p.Thr263=
NM_001318825.1:c.822T>G	NP_001305754.1:p.Thr274=
NR_134869.1:n.1290T>G
NM_000520.6:c.789T>G MANE Select	NP_000511.2:p.Thr263=
NM_001318825.2:c.822T>G	NP_001305754.1:p.Thr274=
NR_134869.2:n.831T>G
NR_134869.3:n.831T>G