Canonical Allele Identifier: CA2186742459

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343704A= , CM000677.2:g.72343704A=	GRCh38
NC_000015.9:g.72636045A= , CM000677.1:g.72636045A=	GRCh37
NC_000015.8:g.70423099A=	NCBI36
NG_009017.1:g.37476T=
NG_009017.2:g.37476T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2190T=
ENST00000682235.1:n.1986T=
ENST00000682461.1:c.2069T=	ENSP00000507308.1:n.2069T=
ENST00000682653.1:n.4272T=
ENST00000682721.1:c.*1766T=	ENSP00000507535.1:n.*1766T=
ENST00000682843.1:c.*1604T=	ENSP00000508173.1:n.*1604T=
ENST00000683133.1:c.2147T=	ENSP00000508108.1:n.2147T=
ENST00000683243.1:c.*1116T=	ENSP00000507042.1:n.*1116T=
ENST00000683463.1:c.*1452T=	ENSP00000507986.1:n.*1452T=
ENST00000683548.1:n.2421T=
ENST00000683579.1:c.*1861T=	ENSP00000506867.1:n.*1861T=
ENST00000683587.1:n.2494T=
ENST00000683735.1:c.*2361T=	ENSP00000508336.1:n.*2361T=
ENST00000683853.1:c.*2073T=	ENSP00000506834.1:n.*2073T=
ENST00000684125.1:c.*623T=	ENSP00000507320.1:n.*623T=
ENST00000684203.1:n.4412T=
ENST00000684231.1:c.*1373T=	ENSP00000507748.1:n.*1373T=
ENST00000684263.1:c.*1587T=	ENSP00000508369.1:n.*1587T=
ENST00000684305.1:c.2411T=	ENSP00000506819.1:n.2411T=
ENST00000684602.1:c.*1629T=	ENSP00000507996.1:n.*1629T=
ENST00000684667.1:c.2294T=	ENSP00000507003.1:n.2294T=
ENST00000268097.10:c.*373T= MANE Select	ENSP00000268097.6:n.*373T=
ENST00000268097.9:c.*373T=	ENSP00000268097.5:n.*373T=
ENST00000379915.4:c.608+1742T=	ENSP00000478716.1:n.608+1742T=
NM_000520.4:c.*373T=	NP_000511.2:n.*373T=
NM_000520.5:c.*373T=	NP_000511.2:n.*373T=
NM_001318825.1:c.*373T=	NP_001305754.1:n.*373T=
NM_000520.6:c.*373T= MANE Select	NP_000511.2:n.*373T=
NM_001318825.2:c.*373T=	NP_001305754.1:n.*373T=