Canonical Allele Identifier: CA491115538

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638647A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346306A>C , CM000677.2:g.72346306A>C	GRCh38
NC_000015.9:g.72638647A>C , CM000677.1:g.72638647A>C	GRCh37
NC_000015.8:g.70425701A>C	NCBI36
NG_009017.1:g.34874T>G
NG_009017.2:g.34874T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*10T>G	ENSP00000457521.2:n.*10T>G
ENST00000682061.1:c.*1012T>G	ENSP00000508316.1:n.*1012T>G
ENST00000682064.1:n.893T>G
ENST00000682177.1:c.1393T>G	ENSP00000507409.1:n.1393T>G
ENST00000682235.1:n.689T>G
ENST00000682461.1:c.1456T>G	ENSP00000507308.1:n.1456T>G
ENST00000682653.1:n.1670T>G
ENST00000682657.1:c.*503T>G	ENSP00000507753.1:n.*503T>G
ENST00000682721.1:c.*1153T>G	ENSP00000507535.1:n.*1153T>G
ENST00000682843.1:c.*991T>G	ENSP00000508173.1:n.*991T>G
ENST00000683003.1:c.*503T>G	ENSP00000507576.1:n.*503T>G
ENST00000683133.1:c.1534T>G	ENSP00000508108.1:n.1534T>G
ENST00000683243.1:c.*503T>G	ENSP00000507042.1:n.*503T>G
ENST00000683463.1:c.*155T>G	ENSP00000507986.1:n.*155T>G
ENST00000683548.1:n.1124T>G
ENST00000683579.1:c.*1248T>G	ENSP00000506867.1:n.*1248T>G
ENST00000683587.1:n.1197T>G
ENST00000683681.1:c.1350T>G	ENSP00000508110.1:p.Ala450=
ENST00000683735.1:c.*1064T>G	ENSP00000508336.1:n.*1064T>G
ENST00000683853.1:c.*155T>G	ENSP00000506834.1:n.*155T>G
ENST00000683860.1:c.1350T>G	ENSP00000507179.1:p.Ala450=
ENST00000683884.1:c.1166T>G	ENSP00000507004.1:p.Leu389Arg
ENST00000684041.1:c.1350T>G	ENSP00000508382.1:p.Ala450=
ENST00000684125.1:c.*10T>G	ENSP00000507320.1:n.*10T>G
ENST00000684203.1:n.3115T>G
ENST00000684231.1:c.*760T>G	ENSP00000507748.1:n.*760T>G
ENST00000684263.1:c.*290T>G	ENSP00000508369.1:n.*290T>G
ENST00000684305.1:c.1798T>G	ENSP00000506819.1:n.1798T>G
ENST00000684415.1:c.*217T>G	ENSP00000507227.1:n.*217T>G
ENST00000684520.1:c.1350T>G	ENSP00000506826.1:p.Ala450=
ENST00000684602.1:c.*1016T>G	ENSP00000507996.1:n.*1016T>G
ENST00000684667.1:c.1681T>G	ENSP00000507003.1:n.1681T>G
ENST00000268097.10:c.1350T>G MANE Select	ENSP00000268097.6:p.Ala450=
ENST00000268097.9:c.1350T>G	ENSP00000268097.5:p.Ala450=
ENST00000379915.4:c.432T>G	ENSP00000478716.1:p.Ala144=
ENST00000563762.5:c.845T>G	ENSP00000456346.1:n.845T>G
ENST00000566304.5:c.1383T>G	ENSP00000455114.1:p.Ala461=
ENST00000566672.5:c.*760T>G	ENSP00000457037.1:n.*760T>G
ENST00000567027.5:c.965T>G
ENST00000567159.5:c.1350T>G	ENSP00000456489.1:p.Ala450=
ENST00000567411.5:c.*871T>G	ENSP00000455545.1:n.*871T>G
ENST00000568777.5:n.6570T>G
ENST00000569410.5:c.*155T>G	ENSP00000457125.1:n.*155T>G
NM_000520.4:c.1350T>G	NP_000511.2:p.Ala450=
NM_000520.5:c.1350T>G	NP_000511.2:p.Ala450=
NM_001318825.1:c.1383T>G	NP_001305754.1:p.Ala461=
NR_134869.1:n.1594T>G
NM_000520.6:c.1350T>G MANE Select	NP_000511.2:p.Ala450=
NM_001318825.2:c.1383T>G	NP_001305754.1:p.Ala461=
NR_134869.2:n.1135T>G
NR_134869.3:n.1135T>G