Canonical Allele Identifier: CA2186747534

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72355591A= , CM000677.2:g.72355591A=	GRCh38
NC_000015.9:g.72647932A= , CM000677.1:g.72647932A=	GRCh37
NC_000015.8:g.70434986A=	NCBI36
NG_009017.1:g.25589T=
NG_009017.2:g.25589T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000520.6:c.380T= MANE Select	NP_000511.2:p.Leu127=
ENST00000268097.10:c.380T= MANE Select	ENSP00000268097.6:p.Leu127=
NM_000520.4:c.380T=	NP_000511.2:p.Leu127=
NM_000520.5:c.380T=	NP_000511.2:p.Leu127=
NM_001318825.1:c.413T=	NP_001305754.1:p.Leu138=
NM_001318825.2:c.413T=	NP_001305754.1:p.Leu138=
NR_134869.1:n.881T=
NR_134869.2:n.422T=
NR_134869.3:n.422T=
ENST00000268097.9:c.380T=	ENSP00000268097.5:p.Leu127=
ENST00000379915.4:c.380T=	ENSP00000478716.1:p.Leu127=
ENST00000563762.5:c.471T=	ENSP00000456346.1:n.471T=
ENST00000563908.1:n.377T=
ENST00000563908.2:n.393T=
ENST00000566304.5:c.413T=	ENSP00000455114.1:p.Leu138=
ENST00000566672.5:c.380T=	ENSP00000457037.1:p.Leu127=
ENST00000567027.5:c.252T=
ENST00000567027.6:c.380T=	ENSP00000457521.2:p.Leu127=
ENST00000567159.5:c.380T=	ENSP00000456489.1:p.Leu127=
ENST00000567411.5:c.380T=	ENSP00000455545.1:p.Leu127=
ENST00000568260.1:c.428T=
ENST00000568260.2:c.447T=	ENSP00000458128.2:n.447T=
ENST00000568777.5:n.3963T=
ENST00000569410.5:c.380T=	ENSP00000457125.1:p.Leu127=
ENST00000569509.5:n.385T=
ENST00000682061.1:c.*42T=	ENSP00000508316.1:n.*42T=
ENST00000682177.1:c.380T=	ENSP00000507409.1:p.Leu127=
ENST00000682461.1:c.644T=	ENSP00000507308.1:n.644T=
ENST00000682653.1:n.411T=
ENST00000682657.1:c.254-4357T=	ENSP00000507753.1:n.254-4357T=
ENST00000682721.1:c.*183T=	ENSP00000507535.1:n.*183T=
ENST00000682843.1:c.*278T=	ENSP00000508173.1:n.*278T=
ENST00000683003.1:c.380T=	ENSP00000507576.1:p.Leu127=
ENST00000683133.1:c.564T=	ENSP00000508108.1:n.564T=
ENST00000683228.1:n.411T=
ENST00000683243.1:c.380T=	ENSP00000507042.1:p.Leu127=
ENST00000683463.1:c.380T=	ENSP00000507986.1:p.Leu127=
ENST00000683548.1:n.411T=
ENST00000683579.1:c.*278T=	ENSP00000506867.1:n.*278T=
ENST00000683587.1:n.411T=
ENST00000683681.1:c.380T=	ENSP00000508110.1:p.Leu127=
ENST00000683735.1:c.*278T=	ENSP00000508336.1:n.*278T=
ENST00000683853.1:c.380T=	ENSP00000506834.1:p.Leu127=
ENST00000683860.1:c.380T=	ENSP00000507179.1:p.Leu127=
ENST00000683884.1:c.380T=	ENSP00000507004.1:p.Leu127=
ENST00000684041.1:c.380T=	ENSP00000508382.1:p.Leu127=
ENST00000684125.1:c.380T=	ENSP00000507320.1:p.Leu127=
ENST00000684203.1:n.397T=
ENST00000684231.1:c.380T=	ENSP00000507748.1:p.Leu127=
ENST00000684263.1:c.380T=	ENSP00000508369.1:p.Leu127=
ENST00000684305.1:c.828T=	ENSP00000506819.1:n.828T=
ENST00000684415.1:c.380T=	ENSP00000507227.1:p.Leu127=
ENST00000684520.1:c.380T=	ENSP00000506826.1:p.Leu127=
ENST00000684602.1:c.*204T=	ENSP00000507996.1:n.*204T=
ENST00000684667.1:c.711T=	ENSP00000507003.1:n.711T=