Canonical Allele Identifier: CA393058774

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637854T>A (hg19) ; chr15:g.72345513T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345513T>A , CM000677.2:g.72345513T>A	GRCh38
NC_000015.9:g.72637854T>A , CM000677.1:g.72637854T>A	GRCh37
NC_000015.8:g.70424908T>A	NCBI36
NG_009017.1:g.35667A>T
NG_009017.2:g.35667A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*119A>T	ENSP00000457521.2:n.*119A>T
ENST00000682061.1:c.*1805A>T	ENSP00000508316.1:n.*1805A>T
ENST00000682064.1:n.1686A>T
ENST00000682177.1:c.1502A>T	ENSP00000507409.1:n.1502A>T
ENST00000682235.1:n.1482A>T
ENST00000682461.1:c.1565A>T	ENSP00000507308.1:n.1565A>T
ENST00000682653.1:n.2463A>T
ENST00000682657.1:c.*1296A>T	ENSP00000507753.1:n.*1296A>T
ENST00000682721.1:c.*1262A>T	ENSP00000507535.1:n.*1262A>T
ENST00000682843.1:c.*1100A>T	ENSP00000508173.1:n.*1100A>T
ENST00000683003.1:c.*1296A>T	ENSP00000507576.1:n.*1296A>T
ENST00000683133.1:c.1643A>T	ENSP00000508108.1:n.1643A>T
ENST00000683243.1:c.*612A>T	ENSP00000507042.1:n.*612A>T
ENST00000683463.1:c.*948A>T	ENSP00000507986.1:n.*948A>T
ENST00000683548.1:n.1917A>T
ENST00000683579.1:c.*1357A>T	ENSP00000506867.1:n.*1357A>T
ENST00000683587.1:n.1990A>T
ENST00000683681.1:c.*137A>T	ENSP00000508110.1:n.*137A>T
ENST00000683735.1:c.*1857A>T	ENSP00000508336.1:n.*1857A>T
ENST00000683853.1:c.*264A>T	ENSP00000506834.1:n.*264A>T
ENST00000683860.1:c.*579A>T	ENSP00000507179.1:n.*579A>T
ENST00000683884.1:c.*786A>T	ENSP00000507004.1:n.*786A>T
ENST00000684041.1:c.*592A>T	ENSP00000508382.1:n.*592A>T
ENST00000684125.1:c.*119A>T	ENSP00000507320.1:n.*119A>T
ENST00000684203.1:n.3908A>T
ENST00000684231.1:c.*869A>T	ENSP00000507748.1:n.*869A>T
ENST00000684263.1:c.*1083A>T	ENSP00000508369.1:n.*1083A>T
ENST00000684305.1:c.1907A>T	ENSP00000506819.1:n.1907A>T
ENST00000684415.1:c.*1010A>T	ENSP00000507227.1:n.*1010A>T
ENST00000684520.1:c.*718A>T	ENSP00000506826.1:n.*718A>T
ENST00000684602.1:c.*1125A>T	ENSP00000507996.1:n.*1125A>T
ENST00000684667.1:c.1790A>T	ENSP00000507003.1:n.1790A>T
ENST00000268097.10:c.1459A>T MANE Select	ENSP00000268097.6:p.Asn487Tyr
ENST00000268097.9:c.1459A>T	ENSP00000268097.5:p.Asn487Tyr
ENST00000379915.4:c.541A>T	ENSP00000478716.1:p.Asn181Tyr
ENST00000564677.5:n.251A>T
ENST00000565873.1:n.370A>T
ENST00000566304.5:c.1492A>T	ENSP00000455114.1:p.Asn498Tyr
ENST00000567027.5:c.1074A>T
ENST00000567159.5:c.1459A>T	ENSP00000456489.1:p.Asn487Tyr
ENST00000567411.5:c.*980A>T	ENSP00000455545.1:n.*980A>T
ENST00000568777.5:n.6679A>T
ENST00000569116.1:n.166A>T
NM_000520.4:c.1459A>T	NP_000511.2:p.Asn487Tyr
NM_000520.5:c.1459A>T	NP_000511.2:p.Asn487Tyr
NM_001318825.1:c.1492A>T	NP_001305754.1:p.Asn498Tyr
NR_134869.1:n.1703A>T
NM_000520.6:c.1459A>T MANE Select	NP_000511.2:p.Asn487Tyr
NM_001318825.2:c.1492A>T	NP_001305754.1:p.Asn498Tyr
NR_134869.2:n.1244A>T
NR_134869.3:n.1244A>T