Canonical Allele Identifier: CA2186742356

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343472T= , CM000677.2:g.72343472T=	GRCh38
NC_000015.9:g.72635813T= , CM000677.1:g.72635813T=	GRCh37
NC_000015.8:g.70422867T=	NCBI36
NG_009017.1:g.37708A=
NG_009017.2:g.37708A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2422A=
ENST00000682235.1:n.2218A=
ENST00000682461.1:c.2301A=	ENSP00000507308.1:n.2301A=
ENST00000682653.1:n.4504A=
ENST00000682721.1:c.*1998A=	ENSP00000507535.1:n.*1998A=
ENST00000682843.1:c.*1836A=	ENSP00000508173.1:n.*1836A=
ENST00000683133.1:c.2379A=	ENSP00000508108.1:n.2379A=
ENST00000683243.1:c.*1348A=	ENSP00000507042.1:n.*1348A=
ENST00000683463.1:c.*1684A=	ENSP00000507986.1:n.*1684A=
ENST00000683548.1:n.2653A=
ENST00000683579.1:c.*2093A=	ENSP00000506867.1:n.*2093A=
ENST00000683587.1:n.2726A=
ENST00000683735.1:c.*2593A=	ENSP00000508336.1:n.*2593A=
ENST00000683853.1:c.*2305A=	ENSP00000506834.1:n.*2305A=
ENST00000684125.1:c.*855A=	ENSP00000507320.1:n.*855A=
ENST00000684203.1:n.4644A=
ENST00000684231.1:c.*1605A=	ENSP00000507748.1:n.*1605A=
ENST00000684263.1:c.*1819A=	ENSP00000508369.1:n.*1819A=
ENST00000684305.1:c.2643A=	ENSP00000506819.1:n.2643A=
ENST00000684602.1:c.*1861A=	ENSP00000507996.1:n.*1861A=
ENST00000684667.1:c.2526A=	ENSP00000507003.1:n.2526A=
ENST00000268097.10:c.*605A= MANE Select	ENSP00000268097.6:n.*605A=
ENST00000268097.9:c.*605A=	ENSP00000268097.5:n.*605A=
ENST00000379915.4:c.608+1974A=	ENSP00000478716.1:n.608+1974A=
NM_000520.4:c.*605A=	NP_000511.2:n.*605A=
NM_000520.5:c.*605A=	NP_000511.2:n.*605A=
NM_001318825.1:c.*605A=	NP_001305754.1:n.*605A=
NM_000520.6:c.*605A= MANE Select	NP_000511.2:n.*605A=
NM_001318825.2:c.*605A=	NP_001305754.1:n.*605A=