Canonical Allele Identifier: CA393062242

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72641458A>C (hg19) ; chr15:g.72349117A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72349117A>C , CM000677.2:g.72349117A>C	GRCh38
NC_000015.9:g.72641458A>C , CM000677.1:g.72641458A>C	GRCh37
NC_000015.8:g.70428512A>C	NCBI36
NG_009017.1:g.32063T>G
NG_009017.2:g.32063T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3294T>G
ENST00000567027.6:c.948T>G	ENSP00000457521.2:p.Tyr316Ter
ENST00000682061.1:c.*610T>G	ENSP00000508316.1:n.*610T>G
ENST00000682177.1:c.991T>G	ENSP00000507409.1:n.991T>G
ENST00000682461.1:c.1054T>G	ENSP00000507308.1:n.1054T>G
ENST00000682653.1:n.979T>G
ENST00000682657.1:c.*358T>G	ENSP00000507753.1:n.*358T>G
ENST00000682721.1:c.*751T>G	ENSP00000507535.1:n.*751T>G
ENST00000682843.1:c.*846T>G	ENSP00000508173.1:n.*846T>G
ENST00000683003.1:c.*358T>G	ENSP00000507576.1:n.*358T>G
ENST00000683133.1:c.1132T>G	ENSP00000508108.1:n.1132T>G
ENST00000683228.1:n.979T>G
ENST00000683243.1:c.*358T>G	ENSP00000507042.1:n.*358T>G
ENST00000683463.1:c.948T>G	ENSP00000507986.1:p.Tyr316Ter
ENST00000683548.1:n.979T>G
ENST00000683579.1:c.*846T>G	ENSP00000506867.1:n.*846T>G
ENST00000683587.1:n.979T>G
ENST00000683681.1:c.948T>G	ENSP00000508110.1:p.Tyr316Ter
ENST00000683735.1:c.*846T>G	ENSP00000508336.1:n.*846T>G
ENST00000683742.1:n.779T>G
ENST00000683853.1:c.948T>G	ENSP00000506834.1:p.Tyr316Ter
ENST00000683860.1:c.948T>G	ENSP00000507179.1:p.Tyr316Ter
ENST00000683884.1:c.948T>G	ENSP00000507004.1:p.Tyr316Ter
ENST00000684041.1:c.948T>G	ENSP00000508382.1:p.Tyr316Ter
ENST00000684125.1:c.948T>G	ENSP00000507320.1:p.Tyr316Ter
ENST00000684203.1:n.2786T>G
ENST00000684231.1:c.*358T>G	ENSP00000507748.1:n.*358T>G
ENST00000684263.1:c.948T>G	ENSP00000508369.1:p.Tyr316Ter
ENST00000684305.1:c.1396T>G	ENSP00000506819.1:n.1396T>G
ENST00000684415.1:c.948T>G	ENSP00000507227.1:p.Tyr316Ter
ENST00000684520.1:c.948T>G	ENSP00000506826.1:p.Tyr316Ter
ENST00000684602.1:c.*614T>G	ENSP00000507996.1:n.*614T>G
ENST00000684667.1:c.1279T>G	ENSP00000507003.1:n.1279T>G
ENST00000268097.10:c.948T>G MANE Select	ENSP00000268097.6:p.Tyr316Ter
ENST00000268097.9:c.948T>G	ENSP00000268097.5:p.Tyr316Ter
ENST00000379915.4:c.413-2792T>G	ENSP00000478716.1:n.413-2792T>G
ENST00000563762.5:c.739-983T>G	ENSP00000456346.1:n.739-983T>G
ENST00000566304.5:c.981T>G	ENSP00000455114.1:p.Tyr327Ter
ENST00000566672.5:c.*358T>G	ENSP00000457037.1:n.*358T>G
ENST00000567027.5:c.820T>G
ENST00000567159.5:c.948T>G	ENSP00000456489.1:p.Tyr316Ter
ENST00000567411.5:c.*469T>G	ENSP00000455545.1:n.*469T>G
ENST00000568777.5:n.6352T>G
ENST00000569410.5:c.948T>G	ENSP00000457125.1:p.Tyr316Ter
NM_000520.4:c.948T>G	NP_000511.2:p.Tyr316Ter
NM_000520.5:c.948T>G	NP_000511.2:p.Tyr316Ter
NM_001318825.1:c.981T>G	NP_001305754.1:p.Tyr327Ter
NR_134869.1:n.1449T>G
NM_000520.6:c.948T>G MANE Select	NP_000511.2:p.Tyr316Ter
NM_001318825.2:c.981T>G	NP_001305754.1:p.Tyr327Ter
NR_134869.2:n.990T>G
NR_134869.3:n.990T>G