Canonical Allele Identifier: CA393058634

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637822A>T (hg19) ; chr15:g.72345481A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345481A>T , CM000677.2:g.72345481A>T	GRCh38
NC_000015.9:g.72637822A>T , CM000677.1:g.72637822A>T	GRCh37
NC_000015.8:g.70424876A>T	NCBI36
NG_009017.1:g.35699T>A
NG_009017.2:g.35699T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*151T>A	ENSP00000457521.2:n.*151T>A
ENST00000682061.1:c.*1837T>A	ENSP00000508316.1:n.*1837T>A
ENST00000682064.1:n.1718T>A
ENST00000682177.1:c.1534T>A	ENSP00000507409.1:n.1534T>A
ENST00000682235.1:n.1514T>A
ENST00000682461.1:c.1597T>A	ENSP00000507308.1:n.1597T>A
ENST00000682653.1:n.2495T>A
ENST00000682657.1:c.*1328T>A	ENSP00000507753.1:n.*1328T>A
ENST00000682721.1:c.*1294T>A	ENSP00000507535.1:n.*1294T>A
ENST00000682843.1:c.*1132T>A	ENSP00000508173.1:n.*1132T>A
ENST00000683003.1:c.*1328T>A	ENSP00000507576.1:n.*1328T>A
ENST00000683133.1:c.1675T>A	ENSP00000508108.1:n.1675T>A
ENST00000683243.1:c.*644T>A	ENSP00000507042.1:n.*644T>A
ENST00000683463.1:c.*980T>A	ENSP00000507986.1:n.*980T>A
ENST00000683548.1:n.1949T>A
ENST00000683579.1:c.*1389T>A	ENSP00000506867.1:n.*1389T>A
ENST00000683587.1:n.2022T>A
ENST00000683681.1:c.*169T>A	ENSP00000508110.1:n.*169T>A
ENST00000683735.1:c.*1889T>A	ENSP00000508336.1:n.*1889T>A
ENST00000683853.1:c.*296T>A	ENSP00000506834.1:n.*296T>A
ENST00000683860.1:c.*611T>A	ENSP00000507179.1:n.*611T>A
ENST00000683884.1:c.*818T>A	ENSP00000507004.1:n.*818T>A
ENST00000684041.1:c.*624T>A	ENSP00000508382.1:n.*624T>A
ENST00000684125.1:c.*151T>A	ENSP00000507320.1:n.*151T>A
ENST00000684203.1:n.3940T>A
ENST00000684231.1:c.*901T>A	ENSP00000507748.1:n.*901T>A
ENST00000684263.1:c.*1115T>A	ENSP00000508369.1:n.*1115T>A
ENST00000684305.1:c.1939T>A	ENSP00000506819.1:n.1939T>A
ENST00000684415.1:c.*1042T>A	ENSP00000507227.1:n.*1042T>A
ENST00000684520.1:c.*750T>A	ENSP00000506826.1:n.*750T>A
ENST00000684602.1:c.*1157T>A	ENSP00000507996.1:n.*1157T>A
ENST00000684667.1:c.1822T>A	ENSP00000507003.1:n.1822T>A
ENST00000268097.10:c.1491T>A MANE Select	ENSP00000268097.6:p.Tyr497Ter
ENST00000268097.9:c.1491T>A	ENSP00000268097.5:p.Tyr497Ter
ENST00000379915.4:c.573T>A	ENSP00000478716.1:p.Tyr191Ter
ENST00000564677.5:n.283T>A
ENST00000565873.1:n.402T>A
ENST00000566304.5:c.1524T>A	ENSP00000455114.1:p.Tyr508Ter
ENST00000567027.5:c.1106T>A
ENST00000567159.5:c.1491T>A	ENSP00000456489.1:p.Tyr497Ter
ENST00000567411.5:c.*1012T>A	ENSP00000455545.1:n.*1012T>A
ENST00000568777.5:n.6711T>A
ENST00000569116.1:n.198T>A
NM_000520.4:c.1491T>A	NP_000511.2:p.Tyr497Ter
NM_000520.5:c.1491T>A	NP_000511.2:p.Tyr497Ter
NM_001318825.1:c.1524T>A	NP_001305754.1:p.Tyr508Ter
NR_134869.1:n.1735T>A
NM_000520.6:c.1491T>A MANE Select	NP_000511.2:p.Tyr497Ter
NM_001318825.2:c.1524T>A	NP_001305754.1:p.Tyr508Ter
NR_134869.2:n.1276T>A
NR_134869.3:n.1276T>A