Canonical Allele Identifier: CA393062717

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72641589A>C (hg19) ; chr15:g.72349248A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72349248A>C , CM000677.2:g.72349248A>C	GRCh38
NC_000015.9:g.72641589A>C , CM000677.1:g.72641589A>C	GRCh37
NC_000015.8:g.70428643A>C	NCBI36
NG_009017.1:g.31932T>G
NG_009017.2:g.31932T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3163T>G
ENST00000567027.6:c.817T>G	ENSP00000457521.2:p.Leu273Val
ENST00000682061.1:c.*479T>G	ENSP00000508316.1:n.*479T>G
ENST00000682177.1:c.860T>G	ENSP00000507409.1:n.860T>G
ENST00000682461.1:c.923T>G	ENSP00000507308.1:n.923T>G
ENST00000682653.1:n.848T>G
ENST00000682657.1:c.*227T>G	ENSP00000507753.1:n.*227T>G
ENST00000682721.1:c.*620T>G	ENSP00000507535.1:n.*620T>G
ENST00000682843.1:c.*715T>G	ENSP00000508173.1:n.*715T>G
ENST00000683003.1:c.*227T>G	ENSP00000507576.1:n.*227T>G
ENST00000683133.1:c.1001T>G	ENSP00000508108.1:n.1001T>G
ENST00000683228.1:n.848T>G
ENST00000683243.1:c.*227T>G	ENSP00000507042.1:n.*227T>G
ENST00000683463.1:c.817T>G	ENSP00000507986.1:p.Leu273Val
ENST00000683548.1:n.848T>G
ENST00000683579.1:c.*715T>G	ENSP00000506867.1:n.*715T>G
ENST00000683587.1:n.848T>G
ENST00000683681.1:c.817T>G	ENSP00000508110.1:p.Leu273Val
ENST00000683735.1:c.*715T>G	ENSP00000508336.1:n.*715T>G
ENST00000683742.1:n.648T>G
ENST00000683853.1:c.817T>G	ENSP00000506834.1:p.Leu273Val
ENST00000683860.1:c.817T>G	ENSP00000507179.1:p.Leu273Val
ENST00000683884.1:c.817T>G	ENSP00000507004.1:p.Leu273Val
ENST00000684041.1:c.817T>G	ENSP00000508382.1:p.Leu273Val
ENST00000684125.1:c.817T>G	ENSP00000507320.1:p.Leu273Val
ENST00000684203.1:n.2655T>G
ENST00000684231.1:c.*227T>G	ENSP00000507748.1:n.*227T>G
ENST00000684263.1:c.817T>G	ENSP00000508369.1:p.Leu273Val
ENST00000684305.1:c.1265T>G	ENSP00000506819.1:n.1265T>G
ENST00000684415.1:c.817T>G	ENSP00000507227.1:p.Leu273Val
ENST00000684520.1:c.817T>G	ENSP00000506826.1:p.Leu273Val
ENST00000684602.1:c.*483T>G	ENSP00000507996.1:n.*483T>G
ENST00000684667.1:c.1148T>G	ENSP00000507003.1:n.1148T>G
ENST00000268097.10:c.817T>G MANE Select	ENSP00000268097.6:p.Leu273Val
ENST00000268097.9:c.817T>G	ENSP00000268097.5:p.Leu273Val
ENST00000379915.4:c.413-2923T>G	ENSP00000478716.1:n.413-2923T>G
ENST00000563762.5:c.739-1114T>G	ENSP00000456346.1:n.739-1114T>G
ENST00000566304.5:c.850T>G	ENSP00000455114.1:p.Leu284Val
ENST00000566672.5:c.*227T>G	ENSP00000457037.1:n.*227T>G
ENST00000567027.5:c.689T>G
ENST00000567159.5:c.817T>G	ENSP00000456489.1:p.Leu273Val
ENST00000567411.5:c.*338T>G	ENSP00000455545.1:n.*338T>G
ENST00000568777.5:n.6221T>G
ENST00000569410.5:c.817T>G	ENSP00000457125.1:p.Leu273Val
NM_000520.4:c.817T>G	NP_000511.2:p.Leu273Val
NM_000520.5:c.817T>G	NP_000511.2:p.Leu273Val
NM_001318825.1:c.850T>G	NP_001305754.1:p.Leu284Val
NR_134869.1:n.1318T>G
NM_000520.6:c.817T>G MANE Select	NP_000511.2:p.Leu273Val
NM_001318825.2:c.850T>G	NP_001305754.1:p.Leu284Val
NR_134869.2:n.859T>G
NR_134869.3:n.859T>G