Canonical Allele Identifier: CA393062487

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72641518A>T (hg19) ; chr15:g.72349177A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72349177A>T , CM000677.2:g.72349177A>T	GRCh38
NC_000015.9:g.72641518A>T , CM000677.1:g.72641518A>T	GRCh37
NC_000015.8:g.70428572A>T	NCBI36
NG_009017.1:g.32003T>A
NG_009017.2:g.32003T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3234T>A
ENST00000567027.6:c.888T>A	ENSP00000457521.2:p.Asn296Lys
ENST00000682061.1:c.*550T>A	ENSP00000508316.1:n.*550T>A
ENST00000682177.1:c.931T>A	ENSP00000507409.1:n.931T>A
ENST00000682461.1:c.994T>A	ENSP00000507308.1:n.994T>A
ENST00000682653.1:n.919T>A
ENST00000682657.1:c.*298T>A	ENSP00000507753.1:n.*298T>A
ENST00000682721.1:c.*691T>A	ENSP00000507535.1:n.*691T>A
ENST00000682843.1:c.*786T>A	ENSP00000508173.1:n.*786T>A
ENST00000683003.1:c.*298T>A	ENSP00000507576.1:n.*298T>A
ENST00000683133.1:c.1072T>A	ENSP00000508108.1:n.1072T>A
ENST00000683228.1:n.919T>A
ENST00000683243.1:c.*298T>A	ENSP00000507042.1:n.*298T>A
ENST00000683463.1:c.888T>A	ENSP00000507986.1:p.Asn296Lys
ENST00000683548.1:n.919T>A
ENST00000683579.1:c.*786T>A	ENSP00000506867.1:n.*786T>A
ENST00000683587.1:n.919T>A
ENST00000683681.1:c.888T>A	ENSP00000508110.1:p.Asn296Lys
ENST00000683735.1:c.*786T>A	ENSP00000508336.1:n.*786T>A
ENST00000683742.1:n.719T>A
ENST00000683853.1:c.888T>A	ENSP00000506834.1:p.Asn296Lys
ENST00000683860.1:c.888T>A	ENSP00000507179.1:p.Asn296Lys
ENST00000683884.1:c.888T>A	ENSP00000507004.1:p.Asn296Lys
ENST00000684041.1:c.888T>A	ENSP00000508382.1:p.Asn296Lys
ENST00000684125.1:c.888T>A	ENSP00000507320.1:p.Asn296Lys
ENST00000684203.1:n.2726T>A
ENST00000684231.1:c.*298T>A	ENSP00000507748.1:n.*298T>A
ENST00000684263.1:c.888T>A	ENSP00000508369.1:p.Asn296Lys
ENST00000684305.1:c.1336T>A	ENSP00000506819.1:n.1336T>A
ENST00000684415.1:c.888T>A	ENSP00000507227.1:p.Asn296Lys
ENST00000684520.1:c.888T>A	ENSP00000506826.1:p.Asn296Lys
ENST00000684602.1:c.*554T>A	ENSP00000507996.1:n.*554T>A
ENST00000684667.1:c.1219T>A	ENSP00000507003.1:n.1219T>A
ENST00000268097.10:c.888T>A MANE Select	ENSP00000268097.6:p.Asn296Lys
ENST00000268097.9:c.888T>A	ENSP00000268097.5:p.Asn296Lys
ENST00000379915.4:c.413-2852T>A	ENSP00000478716.1:n.413-2852T>A
ENST00000563762.5:c.739-1043T>A	ENSP00000456346.1:n.739-1043T>A
ENST00000566304.5:c.921T>A	ENSP00000455114.1:p.Asn307Lys
ENST00000566672.5:c.*298T>A	ENSP00000457037.1:n.*298T>A
ENST00000567027.5:c.760T>A
ENST00000567159.5:c.888T>A	ENSP00000456489.1:p.Asn296Lys
ENST00000567411.5:c.*409T>A	ENSP00000455545.1:n.*409T>A
ENST00000568777.5:n.6292T>A
ENST00000569410.5:c.888T>A	ENSP00000457125.1:p.Asn296Lys
NM_000520.4:c.888T>A	NP_000511.2:p.Asn296Lys
NM_000520.5:c.888T>A	NP_000511.2:p.Asn296Lys
NM_001318825.1:c.921T>A	NP_001305754.1:p.Asn307Lys
NR_134869.1:n.1389T>A
NM_000520.6:c.888T>A MANE Select	NP_000511.2:p.Asn296Lys
NM_001318825.2:c.921T>A	NP_001305754.1:p.Asn307Lys
NR_134869.2:n.930T>A
NR_134869.3:n.930T>A