Canonical Allele Identifier: CA393058632

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637821C>T (hg19) ; chr15:g.72345480C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345480C>T , CM000677.2:g.72345480C>T	GRCh38
NC_000015.9:g.72637821C>T , CM000677.1:g.72637821C>T	GRCh37
NC_000015.8:g.70424875C>T	NCBI36
NG_009017.1:g.35700G>A
NG_009017.2:g.35700G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*152G>A	ENSP00000457521.2:n.*152G>A
ENST00000682061.1:c.*1838G>A	ENSP00000508316.1:n.*1838G>A
ENST00000682064.1:n.1719G>A
ENST00000682177.1:c.1535G>A	ENSP00000507409.1:n.1535G>A
ENST00000682235.1:n.1515G>A
ENST00000682461.1:c.1598G>A	ENSP00000507308.1:n.1598G>A
ENST00000682653.1:n.2496G>A
ENST00000682657.1:c.*1329G>A	ENSP00000507753.1:n.*1329G>A
ENST00000682721.1:c.*1295G>A	ENSP00000507535.1:n.*1295G>A
ENST00000682843.1:c.*1133G>A	ENSP00000508173.1:n.*1133G>A
ENST00000683003.1:c.*1329G>A	ENSP00000507576.1:n.*1329G>A
ENST00000683133.1:c.1676G>A	ENSP00000508108.1:n.1676G>A
ENST00000683243.1:c.*645G>A	ENSP00000507042.1:n.*645G>A
ENST00000683463.1:c.*981G>A	ENSP00000507986.1:n.*981G>A
ENST00000683548.1:n.1950G>A
ENST00000683579.1:c.*1390G>A	ENSP00000506867.1:n.*1390G>A
ENST00000683587.1:n.2023G>A
ENST00000683681.1:c.*170G>A	ENSP00000508110.1:n.*170G>A
ENST00000683735.1:c.*1890G>A	ENSP00000508336.1:n.*1890G>A
ENST00000683853.1:c.*297G>A	ENSP00000506834.1:n.*297G>A
ENST00000683860.1:c.*612G>A	ENSP00000507179.1:n.*612G>A
ENST00000683884.1:c.*819G>A	ENSP00000507004.1:n.*819G>A
ENST00000684041.1:c.*625G>A	ENSP00000508382.1:n.*625G>A
ENST00000684125.1:c.*152G>A	ENSP00000507320.1:n.*152G>A
ENST00000684203.1:n.3941G>A
ENST00000684231.1:c.*902G>A	ENSP00000507748.1:n.*902G>A
ENST00000684263.1:c.*1116G>A	ENSP00000508369.1:n.*1116G>A
ENST00000684305.1:c.1940G>A	ENSP00000506819.1:n.1940G>A
ENST00000684415.1:c.*1043G>A	ENSP00000507227.1:n.*1043G>A
ENST00000684520.1:c.*751G>A	ENSP00000506826.1:n.*751G>A
ENST00000684602.1:c.*1158G>A	ENSP00000507996.1:n.*1158G>A
ENST00000684667.1:c.1823G>A	ENSP00000507003.1:n.1823G>A
ENST00000268097.10:c.1492G>A MANE Select	ENSP00000268097.6:p.Glu498Lys
ENST00000268097.9:c.1492G>A	ENSP00000268097.5:p.Glu498Lys
ENST00000379915.4:c.574G>A	ENSP00000478716.1:p.Glu192Lys
ENST00000564677.5:n.284G>A
ENST00000565873.1:n.403G>A
ENST00000566304.5:c.1525G>A	ENSP00000455114.1:p.Glu509Lys
ENST00000567027.5:c.1107G>A
ENST00000567159.5:c.1492G>A	ENSP00000456489.1:p.Glu498Lys
ENST00000567411.5:c.*1013G>A	ENSP00000455545.1:n.*1013G>A
ENST00000568777.5:n.6712G>A
ENST00000569116.1:n.199G>A
NM_000520.4:c.1492G>A	NP_000511.2:p.Glu498Lys
NM_000520.5:c.1492G>A	NP_000511.2:p.Glu498Lys
NM_001318825.1:c.1525G>A	NP_001305754.1:p.Glu509Lys
NR_134869.1:n.1736G>A
NM_000520.6:c.1492G>A MANE Select	NP_000511.2:p.Glu498Lys
NM_001318825.2:c.1525G>A	NP_001305754.1:p.Glu509Lys
NR_134869.2:n.1277G>A
NR_134869.3:n.1277G>A