Canonical Allele Identifier: CA2186742451

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343686A= , CM000677.2:g.72343686A=	GRCh38
NC_000015.9:g.72636027A= , CM000677.1:g.72636027A=	GRCh37
NC_000015.8:g.70423081A=	NCBI36
NG_009017.1:g.37494T=
NG_009017.2:g.37494T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2208T=
ENST00000682235.1:n.2004T=
ENST00000682461.1:c.2087T=	ENSP00000507308.1:n.2087T=
ENST00000682653.1:n.4290T=
ENST00000682721.1:c.*1784T=	ENSP00000507535.1:n.*1784T=
ENST00000682843.1:c.*1622T=	ENSP00000508173.1:n.*1622T=
ENST00000683133.1:c.2165T=	ENSP00000508108.1:n.2165T=
ENST00000683243.1:c.*1134T=	ENSP00000507042.1:n.*1134T=
ENST00000683463.1:c.*1470T=	ENSP00000507986.1:n.*1470T=
ENST00000683548.1:n.2439T=
ENST00000683579.1:c.*1879T=	ENSP00000506867.1:n.*1879T=
ENST00000683587.1:n.2512T=
ENST00000683735.1:c.*2379T=	ENSP00000508336.1:n.*2379T=
ENST00000683853.1:c.*2091T=	ENSP00000506834.1:n.*2091T=
ENST00000684125.1:c.*641T=	ENSP00000507320.1:n.*641T=
ENST00000684203.1:n.4430T=
ENST00000684231.1:c.*1391T=	ENSP00000507748.1:n.*1391T=
ENST00000684263.1:c.*1605T=	ENSP00000508369.1:n.*1605T=
ENST00000684305.1:c.2429T=	ENSP00000506819.1:n.2429T=
ENST00000684602.1:c.*1647T=	ENSP00000507996.1:n.*1647T=
ENST00000684667.1:c.2312T=	ENSP00000507003.1:n.2312T=
ENST00000268097.10:c.*391T= MANE Select	ENSP00000268097.6:n.*391T=
ENST00000268097.9:c.*391T=	ENSP00000268097.5:n.*391T=
ENST00000379915.4:c.608+1760T=	ENSP00000478716.1:n.608+1760T=
NM_000520.4:c.*391T=	NP_000511.2:n.*391T=
NM_000520.5:c.*391T=	NP_000511.2:n.*391T=
NM_001318825.1:c.*391T=	NP_001305754.1:n.*391T=
NM_000520.6:c.*391T= MANE Select	NP_000511.2:n.*391T=
NM_001318825.2:c.*391T=	NP_001305754.1:n.*391T=