Canonical Allele Identifier: CA491125454

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72643483G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72351142G>T , CM000677.2:g.72351142G>T	GRCh38
NC_000015.9:g.72643483G>T , CM000677.1:g.72643483G>T	GRCh37
NC_000015.8:g.70430537G>T	NCBI36
NG_009017.1:g.30038C>A
NG_009017.2:g.30038C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3009C>A
ENST00000567027.6:c.663C>A	ENSP00000457521.2:p.Leu221=
ENST00000568260.2:c.683C>A	ENSP00000458128.2:n.683C>A
ENST00000682061.1:c.*325C>A	ENSP00000508316.1:n.*325C>A
ENST00000682177.1:c.663C>A	ENSP00000507409.1:p.Leu221=
ENST00000682461.1:c.769C>A	ENSP00000507308.1:n.769C>A
ENST00000682653.1:n.694C>A
ENST00000682657.1:c.*73C>A	ENSP00000507753.1:n.*73C>A
ENST00000682721.1:c.*466C>A	ENSP00000507535.1:n.*466C>A
ENST00000682843.1:c.*561C>A	ENSP00000508173.1:n.*561C>A
ENST00000683003.1:c.*73C>A	ENSP00000507576.1:n.*73C>A
ENST00000683133.1:c.847C>A	ENSP00000508108.1:n.847C>A
ENST00000683228.1:n.694C>A
ENST00000683243.1:c.*73C>A	ENSP00000507042.1:n.*73C>A
ENST00000683463.1:c.663C>A	ENSP00000507986.1:p.Leu221=
ENST00000683548.1:n.694C>A
ENST00000683579.1:c.*561C>A	ENSP00000506867.1:n.*561C>A
ENST00000683587.1:n.694C>A
ENST00000683681.1:c.663C>A	ENSP00000508110.1:p.Leu221=
ENST00000683735.1:c.*561C>A	ENSP00000508336.1:n.*561C>A
ENST00000683742.1:n.494C>A
ENST00000683853.1:c.663C>A	ENSP00000506834.1:p.Leu221=
ENST00000683860.1:c.663C>A	ENSP00000507179.1:p.Leu221=
ENST00000683884.1:c.663C>A	ENSP00000507004.1:p.Leu221=
ENST00000684041.1:c.663C>A	ENSP00000508382.1:p.Leu221=
ENST00000684125.1:c.663C>A	ENSP00000507320.1:p.Leu221=
ENST00000684203.1:n.2501C>A
ENST00000684231.1:c.*73C>A	ENSP00000507748.1:n.*73C>A
ENST00000684263.1:c.663C>A	ENSP00000508369.1:p.Leu221=
ENST00000684305.1:c.1111C>A	ENSP00000506819.1:n.1111C>A
ENST00000684415.1:c.663C>A	ENSP00000507227.1:p.Leu221=
ENST00000684520.1:c.663C>A	ENSP00000506826.1:p.Leu221=
ENST00000684602.1:c.*329C>A	ENSP00000507996.1:n.*329C>A
ENST00000684667.1:c.994C>A	ENSP00000507003.1:n.994C>A
ENST00000268097.10:c.663C>A MANE Select	ENSP00000268097.6:p.Leu221=
ENST00000268097.9:c.663C>A	ENSP00000268097.5:p.Leu221=
ENST00000379915.4:c.412+4417C>A	ENSP00000478716.1:n.412+4417C>A
ENST00000563762.5:c.596C>A	ENSP00000456346.1:n.596C>A
ENST00000566304.5:c.696C>A	ENSP00000455114.1:p.Leu232=
ENST00000566672.5:c.*73C>A	ENSP00000457037.1:n.*73C>A
ENST00000567027.5:c.535C>A
ENST00000567159.5:c.663C>A	ENSP00000456489.1:p.Leu221=
ENST00000567411.5:c.*184C>A	ENSP00000455545.1:n.*184C>A
ENST00000568260.1:c.664C>A
ENST00000568777.5:n.6067C>A
ENST00000569410.5:c.663C>A	ENSP00000457125.1:p.Leu221=
ENST00000569509.5:n.510C>A
NM_000520.4:c.663C>A	NP_000511.2:p.Leu221=
NM_000520.5:c.663C>A	NP_000511.2:p.Leu221=
NM_001318825.1:c.696C>A	NP_001305754.1:p.Leu232=
NR_134869.1:n.1164C>A
NM_000520.6:c.663C>A MANE Select	NP_000511.2:p.Leu221=
NM_001318825.2:c.696C>A	NP_001305754.1:p.Leu232=
NR_134869.2:n.705C>A
NR_134869.3:n.705C>A