Canonical Allele Identifier: CA393063054

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72642893A>C (hg19) ; chr15:g.72350552A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72350552A>C , CM000677.2:g.72350552A>C	GRCh38
NC_000015.9:g.72642893A>C , CM000677.1:g.72642893A>C	GRCh37
NC_000015.8:g.70429947A>C	NCBI36
NG_009017.1:g.30628T>G
NG_009017.2:g.30628T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3117T>G
ENST00000567027.6:c.771T>G	ENSP00000457521.2:p.Phe257Leu
ENST00000682061.1:c.*433T>G	ENSP00000508316.1:n.*433T>G
ENST00000682177.1:c.814T>G	ENSP00000507409.1:n.814T>G
ENST00000682461.1:c.877T>G	ENSP00000507308.1:n.877T>G
ENST00000682653.1:n.802T>G
ENST00000682657.1:c.*181T>G	ENSP00000507753.1:n.*181T>G
ENST00000682721.1:c.*574T>G	ENSP00000507535.1:n.*574T>G
ENST00000682843.1:c.*669T>G	ENSP00000508173.1:n.*669T>G
ENST00000683003.1:c.*181T>G	ENSP00000507576.1:n.*181T>G
ENST00000683133.1:c.955T>G	ENSP00000508108.1:n.955T>G
ENST00000683228.1:n.802T>G
ENST00000683243.1:c.*181T>G	ENSP00000507042.1:n.*181T>G
ENST00000683463.1:c.771T>G	ENSP00000507986.1:p.Phe257Leu
ENST00000683548.1:n.802T>G
ENST00000683579.1:c.*669T>G	ENSP00000506867.1:n.*669T>G
ENST00000683587.1:n.802T>G
ENST00000683681.1:c.771T>G	ENSP00000508110.1:p.Phe257Leu
ENST00000683735.1:c.*669T>G	ENSP00000508336.1:n.*669T>G
ENST00000683742.1:n.602T>G
ENST00000683853.1:c.771T>G	ENSP00000506834.1:p.Phe257Leu
ENST00000683860.1:c.771T>G	ENSP00000507179.1:p.Phe257Leu
ENST00000683884.1:c.771T>G	ENSP00000507004.1:p.Phe257Leu
ENST00000684041.1:c.771T>G	ENSP00000508382.1:p.Phe257Leu
ENST00000684125.1:c.771T>G	ENSP00000507320.1:p.Phe257Leu
ENST00000684203.1:n.2609T>G
ENST00000684231.1:c.*181T>G	ENSP00000507748.1:n.*181T>G
ENST00000684263.1:c.771T>G	ENSP00000508369.1:p.Phe257Leu
ENST00000684305.1:c.1219T>G	ENSP00000506819.1:n.1219T>G
ENST00000684415.1:c.771T>G	ENSP00000507227.1:p.Phe257Leu
ENST00000684520.1:c.771T>G	ENSP00000506826.1:p.Phe257Leu
ENST00000684602.1:c.*437T>G	ENSP00000507996.1:n.*437T>G
ENST00000684667.1:c.1102T>G	ENSP00000507003.1:n.1102T>G
ENST00000268097.10:c.771T>G MANE Select	ENSP00000268097.6:p.Phe257Leu
ENST00000268097.9:c.771T>G	ENSP00000268097.5:p.Phe257Leu
ENST00000379915.4:c.413-4227T>G	ENSP00000478716.1:n.413-4227T>G
ENST00000563762.5:c.704T>G	ENSP00000456346.1:n.704T>G
ENST00000566304.5:c.804T>G	ENSP00000455114.1:p.Phe268Leu
ENST00000566672.5:c.*181T>G	ENSP00000457037.1:n.*181T>G
ENST00000567027.5:c.643T>G
ENST00000567159.5:c.771T>G	ENSP00000456489.1:p.Phe257Leu
ENST00000567411.5:c.*292T>G	ENSP00000455545.1:n.*292T>G
ENST00000568777.5:n.6175T>G
ENST00000569410.5:c.771T>G	ENSP00000457125.1:p.Phe257Leu
NM_000520.4:c.771T>G	NP_000511.2:p.Phe257Leu
NM_000520.5:c.771T>G	NP_000511.2:p.Phe257Leu
NM_001318825.1:c.804T>G	NP_001305754.1:p.Phe268Leu
NR_134869.1:n.1272T>G
NM_000520.6:c.771T>G MANE Select	NP_000511.2:p.Phe257Leu
NM_001318825.2:c.804T>G	NP_001305754.1:p.Phe268Leu
NR_134869.2:n.813T>G
NR_134869.3:n.813T>G