Canonical Allele Identifier: CA393058740

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637847A>C (hg19) ; chr15:g.72345506A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345506A>C , CM000677.2:g.72345506A>C	GRCh38
NC_000015.9:g.72637847A>C , CM000677.1:g.72637847A>C	GRCh37
NC_000015.8:g.70424901A>C	NCBI36
NG_009017.1:g.35674T>G
NG_009017.2:g.35674T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*126T>G	ENSP00000457521.2:n.*126T>G
ENST00000682061.1:c.*1812T>G	ENSP00000508316.1:n.*1812T>G
ENST00000682064.1:n.1693T>G
ENST00000682177.1:c.1509T>G	ENSP00000507409.1:n.1509T>G
ENST00000682235.1:n.1489T>G
ENST00000682461.1:c.1572T>G	ENSP00000507308.1:n.1572T>G
ENST00000682653.1:n.2470T>G
ENST00000682657.1:c.*1303T>G	ENSP00000507753.1:n.*1303T>G
ENST00000682721.1:c.*1269T>G	ENSP00000507535.1:n.*1269T>G
ENST00000682843.1:c.*1107T>G	ENSP00000508173.1:n.*1107T>G
ENST00000683003.1:c.*1303T>G	ENSP00000507576.1:n.*1303T>G
ENST00000683133.1:c.1650T>G	ENSP00000508108.1:n.1650T>G
ENST00000683243.1:c.*619T>G	ENSP00000507042.1:n.*619T>G
ENST00000683463.1:c.*955T>G	ENSP00000507986.1:n.*955T>G
ENST00000683548.1:n.1924T>G
ENST00000683579.1:c.*1364T>G	ENSP00000506867.1:n.*1364T>G
ENST00000683587.1:n.1997T>G
ENST00000683681.1:c.*144T>G	ENSP00000508110.1:n.*144T>G
ENST00000683735.1:c.*1864T>G	ENSP00000508336.1:n.*1864T>G
ENST00000683853.1:c.*271T>G	ENSP00000506834.1:n.*271T>G
ENST00000683860.1:c.*586T>G	ENSP00000507179.1:n.*586T>G
ENST00000683884.1:c.*793T>G	ENSP00000507004.1:n.*793T>G
ENST00000684041.1:c.*599T>G	ENSP00000508382.1:n.*599T>G
ENST00000684125.1:c.*126T>G	ENSP00000507320.1:n.*126T>G
ENST00000684203.1:n.3915T>G
ENST00000684231.1:c.*876T>G	ENSP00000507748.1:n.*876T>G
ENST00000684263.1:c.*1090T>G	ENSP00000508369.1:n.*1090T>G
ENST00000684305.1:c.1914T>G	ENSP00000506819.1:n.1914T>G
ENST00000684415.1:c.*1017T>G	ENSP00000507227.1:n.*1017T>G
ENST00000684520.1:c.*725T>G	ENSP00000506826.1:n.*725T>G
ENST00000684602.1:c.*1132T>G	ENSP00000507996.1:n.*1132T>G
ENST00000684667.1:c.1797T>G	ENSP00000507003.1:n.1797T>G
ENST00000268097.10:c.1466T>G MANE Select	ENSP00000268097.6:p.Leu489Trp
ENST00000268097.9:c.1466T>G	ENSP00000268097.5:p.Leu489Trp
ENST00000379915.4:c.548T>G	ENSP00000478716.1:p.Leu183Trp
ENST00000564677.5:n.258T>G
ENST00000565873.1:n.377T>G
ENST00000566304.5:c.1499T>G	ENSP00000455114.1:p.Leu500Trp
ENST00000567027.5:c.1081T>G
ENST00000567159.5:c.1466T>G	ENSP00000456489.1:p.Leu489Trp
ENST00000567411.5:c.*987T>G	ENSP00000455545.1:n.*987T>G
ENST00000568777.5:n.6686T>G
ENST00000569116.1:n.173T>G
NM_000520.4:c.1466T>G	NP_000511.2:p.Leu489Trp
NM_000520.5:c.1466T>G	NP_000511.2:p.Leu489Trp
NM_001318825.1:c.1499T>G	NP_001305754.1:p.Leu500Trp
NR_134869.1:n.1710T>G
NM_000520.6:c.1466T>G MANE Select	NP_000511.2:p.Leu489Trp
NM_001318825.2:c.1499T>G	NP_001305754.1:p.Leu500Trp
NR_134869.2:n.1251T>G
NR_134869.3:n.1251T>G