Canonical Allele Identifier: CA2186743398

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345822C= , CM000677.2:g.72345822C=	GRCh38
NC_000015.9:g.72638163C= , CM000677.1:g.72638163C=	GRCh37
NC_000015.8:g.70425217C=	NCBI36
NG_009017.1:g.35358G=
NG_009017.2:g.35358G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-272G=	ENSP00000457521.2:n.*82-272G=
ENST00000682061.1:c.*1496G=	ENSP00000508316.1:n.*1496G=
ENST00000682064.1:n.1377G=
ENST00000682177.1:c.1465-272G=	ENSP00000507409.1:n.1465-272G=
ENST00000682235.1:n.1173G=
ENST00000682461.1:c.1528-272G=	ENSP00000507308.1:n.1528-272G=
ENST00000682653.1:n.2154G=
ENST00000682657.1:c.*987G=	ENSP00000507753.1:n.*987G=
ENST00000682721.1:c.*1225-272G=	ENSP00000507535.1:n.*1225-272G=
ENST00000682843.1:c.*1063-272G=	ENSP00000508173.1:n.*1063-272G=
ENST00000683003.1:c.*987G=	ENSP00000507576.1:n.*987G=
ENST00000683133.1:c.1606-272G=	ENSP00000508108.1:n.1606-272G=
ENST00000683243.1:c.*575-272G=	ENSP00000507042.1:n.*575-272G=
ENST00000683463.1:c.*639G=	ENSP00000507986.1:n.*639G=
ENST00000683548.1:n.1608G=
ENST00000683579.1:c.*1320-272G=	ENSP00000506867.1:n.*1320-272G=
ENST00000683587.1:n.1681G=
ENST00000683681.1:c.1422-46G=	ENSP00000508110.1:n.1422-46G=
ENST00000683735.1:c.*1548G=	ENSP00000508336.1:n.*1548G=
ENST00000683853.1:c.*227-272G=	ENSP00000506834.1:n.*227-272G=
ENST00000683860.1:c.*270G=	ENSP00000507179.1:n.*270G=
ENST00000683884.1:c.*477G=	ENSP00000507004.1:n.*477G=
ENST00000684041.1:c.*409G=	ENSP00000508382.1:n.*409G=
ENST00000684125.1:c.*82-272G=	ENSP00000507320.1:n.*82-272G=
ENST00000684203.1:n.3599G=
ENST00000684231.1:c.*832-272G=	ENSP00000507748.1:n.*832-272G=
ENST00000684263.1:c.*774G=	ENSP00000508369.1:n.*774G=
ENST00000684305.1:c.1870-272G=	ENSP00000506819.1:n.1870-272G=
ENST00000684415.1:c.*701G=	ENSP00000507227.1:n.*701G=
ENST00000684520.1:c.*409G=	ENSP00000506826.1:n.*409G=
ENST00000684602.1:c.*1088-272G=	ENSP00000507996.1:n.*1088-272G=
ENST00000684667.1:c.1753-272G=	ENSP00000507003.1:n.1753-272G=
ENST00000268097.10:c.1422-272G= MANE Select	ENSP00000268097.6:n.1422-272G=
ENST00000268097.9:c.1422-272G=	ENSP00000268097.5:n.1422-272G=
ENST00000379915.4:c.504-272G=	ENSP00000478716.1:n.504-272G=
ENST00000564677.5:n.68G=
ENST00000565873.1:n.61G=
ENST00000566304.5:c.1455-272G=	ENSP00000455114.1:n.1455-272G=
ENST00000567027.5:c.1037-272G=
ENST00000567159.5:c.1422-272G=	ENSP00000456489.1:n.1422-272G=
ENST00000567411.5:c.*943-272G=	ENSP00000455545.1:n.*943-272G=
ENST00000568777.5:n.6642-272G=
NM_000520.4:c.1422-272G=	NP_000511.2:n.1422-272G=
NM_000520.5:c.1422-272G=	NP_000511.2:n.1422-272G=
NM_001318825.1:c.1455-272G=	NP_001305754.1:n.1455-272G=
NR_134869.1:n.1666-272G=
NM_000520.6:c.1422-272G= MANE Select	NP_000511.2:n.1422-272G=
NM_001318825.2:c.1455-272G=	NP_001305754.1:n.1455-272G=
NR_134869.2:n.1207-272G=
NR_134869.3:n.1207-272G=