Canonical Allele Identifier: CA393064875

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72645463C>G (hg19) ; chr15:g.72353122C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72353122C>G , CM000677.2:g.72353122C>G	GRCh38
NC_000015.9:g.72645463C>G , CM000677.1:g.72645463C>G	GRCh37
NC_000015.8:g.70432517C>G	NCBI36
NG_009017.1:g.28058G>C
NG_009017.2:g.28058G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.2862G>C
ENST00000567027.6:c.516G>C	ENSP00000457521.2:p.Leu172Phe
ENST00000568260.2:c.536G>C	ENSP00000458128.2:n.536G>C
ENST00000682061.1:c.*178G>C	ENSP00000508316.1:n.*178G>C
ENST00000682177.1:c.516G>C	ENSP00000507409.1:p.Leu172Phe
ENST00000682461.1:c.677-1888G>C	ENSP00000507308.1:n.677-1888G>C
ENST00000682653.1:n.547G>C
ENST00000682657.1:c.254-1888G>C	ENSP00000507753.1:n.254-1888G>C
ENST00000682721.1:c.*319G>C	ENSP00000507535.1:n.*319G>C
ENST00000682843.1:c.*414G>C	ENSP00000508173.1:n.*414G>C
ENST00000683003.1:c.413-1888G>C	ENSP00000507576.1:n.413-1888G>C
ENST00000683133.1:c.700G>C	ENSP00000508108.1:n.700G>C
ENST00000683228.1:n.547G>C
ENST00000683243.1:c.413-1888G>C	ENSP00000507042.1:n.413-1888G>C
ENST00000683463.1:c.516G>C	ENSP00000507986.1:p.Leu172Phe
ENST00000683548.1:n.547G>C
ENST00000683579.1:c.*414G>C	ENSP00000506867.1:n.*414G>C
ENST00000683587.1:n.547G>C
ENST00000683681.1:c.516G>C	ENSP00000508110.1:p.Leu172Phe
ENST00000683735.1:c.*414G>C	ENSP00000508336.1:n.*414G>C
ENST00000683853.1:c.516G>C	ENSP00000506834.1:p.Leu172Phe
ENST00000683860.1:c.516G>C	ENSP00000507179.1:p.Leu172Phe
ENST00000683884.1:c.516G>C	ENSP00000507004.1:p.Leu172Phe
ENST00000684041.1:c.516G>C	ENSP00000508382.1:p.Leu172Phe
ENST00000684125.1:c.516G>C	ENSP00000507320.1:p.Leu172Phe
ENST00000684203.1:n.2354G>C
ENST00000684231.1:c.413-1888G>C	ENSP00000507748.1:n.413-1888G>C
ENST00000684263.1:c.516G>C	ENSP00000508369.1:p.Leu172Phe
ENST00000684305.1:c.964G>C	ENSP00000506819.1:n.964G>C
ENST00000684415.1:c.516G>C	ENSP00000507227.1:p.Leu172Phe
ENST00000684520.1:c.516G>C	ENSP00000506826.1:p.Leu172Phe
ENST00000684602.1:c.*237-1888G>C	ENSP00000507996.1:n.*237-1888G>C
ENST00000684667.1:c.847G>C	ENSP00000507003.1:n.847G>C
ENST00000268097.10:c.516G>C MANE Select	ENSP00000268097.6:p.Leu172Phe
ENST00000268097.9:c.516G>C	ENSP00000268097.5:p.Leu172Phe
ENST00000379915.4:c.412+2437G>C	ENSP00000478716.1:n.412+2437G>C
ENST00000563762.5:c.504-1888G>C	ENSP00000456346.1:n.504-1888G>C
ENST00000566304.5:c.549G>C	ENSP00000455114.1:p.Leu183Phe
ENST00000566672.5:c.413-1888G>C	ENSP00000457037.1:n.413-1888G>C
ENST00000567027.5:c.388G>C
ENST00000567159.5:c.516G>C	ENSP00000456489.1:p.Leu172Phe
ENST00000567411.5:c.*37G>C	ENSP00000455545.1:n.*37G>C
ENST00000568260.1:c.517G>C
ENST00000568777.5:n.5920G>C
ENST00000569410.5:c.516G>C	ENSP00000457125.1:p.Leu172Phe
ENST00000569509.5:n.418-1888G>C
NM_000520.4:c.516G>C	NP_000511.2:p.Leu172Phe
NM_000520.5:c.516G>C	NP_000511.2:p.Leu172Phe
NM_001318825.1:c.549G>C	NP_001305754.1:p.Leu183Phe
NR_134869.1:n.1017G>C
NM_000520.6:c.516G>C MANE Select	NP_000511.2:p.Leu172Phe
NM_001318825.2:c.549G>C	NP_001305754.1:p.Leu183Phe
NR_134869.2:n.558G>C
NR_134869.3:n.558G>C