Canonical Allele Identifier: CA2186742357

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343478T= , CM000677.2:g.72343478T=	GRCh38
NC_000015.9:g.72635819T= , CM000677.1:g.72635819T=	GRCh37
NC_000015.8:g.70422873T=	NCBI36
NG_009017.1:g.37702A=
NG_009017.2:g.37702A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2416A=
ENST00000682235.1:n.2212A=
ENST00000682461.1:c.2295A=	ENSP00000507308.1:n.2295A=
ENST00000682653.1:n.4498A=
ENST00000682721.1:c.*1992A=	ENSP00000507535.1:n.*1992A=
ENST00000682843.1:c.*1830A=	ENSP00000508173.1:n.*1830A=
ENST00000683133.1:c.2373A=	ENSP00000508108.1:n.2373A=
ENST00000683243.1:c.*1342A=	ENSP00000507042.1:n.*1342A=
ENST00000683463.1:c.*1678A=	ENSP00000507986.1:n.*1678A=
ENST00000683548.1:n.2647A=
ENST00000683579.1:c.*2087A=	ENSP00000506867.1:n.*2087A=
ENST00000683587.1:n.2720A=
ENST00000683735.1:c.*2587A=	ENSP00000508336.1:n.*2587A=
ENST00000683853.1:c.*2299A=	ENSP00000506834.1:n.*2299A=
ENST00000684125.1:c.*849A=	ENSP00000507320.1:n.*849A=
ENST00000684203.1:n.4638A=
ENST00000684231.1:c.*1599A=	ENSP00000507748.1:n.*1599A=
ENST00000684263.1:c.*1813A=	ENSP00000508369.1:n.*1813A=
ENST00000684305.1:c.2637A=	ENSP00000506819.1:n.2637A=
ENST00000684602.1:c.*1855A=	ENSP00000507996.1:n.*1855A=
ENST00000684667.1:c.2520A=	ENSP00000507003.1:n.2520A=
ENST00000268097.10:c.*599A= MANE Select	ENSP00000268097.6:n.*599A=
ENST00000268097.9:c.*599A=	ENSP00000268097.5:n.*599A=
ENST00000379915.4:c.608+1968A=	ENSP00000478716.1:n.608+1968A=
NM_000520.4:c.*599A=	NP_000511.2:n.*599A=
NM_000520.5:c.*599A=	NP_000511.2:n.*599A=
NM_001318825.1:c.*599A=	NP_001305754.1:n.*599A=
NM_000520.6:c.*599A= MANE Select	NP_000511.2:n.*599A=
NM_001318825.2:c.*599A=	NP_001305754.1:n.*599A=