Canonical Allele Identifier: CA10647369

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343562C>T , CM000677.2:g.72343562C>T	GRCh38
NC_000015.9:g.72635903C>T , CM000677.1:g.72635903C>T	GRCh37
NC_000015.8:g.70422957C>T	NCBI36
NG_009017.1:g.37618G>A
NG_009017.2:g.37618G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.2332G>A
ENST00000682235.1:n.2128G>A
ENST00000682461.1:c.2211G>A	ENSP00000507308.1:n.2211G>A
ENST00000682653.1:n.4414G>A
ENST00000682721.1:c.*1908G>A	ENSP00000507535.1:n.*1908G>A
ENST00000682843.1:c.*1746G>A	ENSP00000508173.1:n.*1746G>A
ENST00000683133.1:c.2289G>A	ENSP00000508108.1:n.2289G>A
ENST00000683243.1:c.*1258G>A	ENSP00000507042.1:n.*1258G>A
ENST00000683463.1:c.*1594G>A	ENSP00000507986.1:n.*1594G>A
ENST00000683548.1:n.2563G>A
ENST00000683579.1:c.*2003G>A	ENSP00000506867.1:n.*2003G>A
ENST00000683587.1:n.2636G>A
ENST00000683735.1:c.*2503G>A	ENSP00000508336.1:n.*2503G>A
ENST00000683853.1:c.*2215G>A	ENSP00000506834.1:n.*2215G>A
ENST00000684125.1:c.*765G>A	ENSP00000507320.1:n.*765G>A
ENST00000684203.1:n.4554G>A
ENST00000684231.1:c.*1515G>A	ENSP00000507748.1:n.*1515G>A
ENST00000684263.1:c.*1729G>A	ENSP00000508369.1:n.*1729G>A
ENST00000684305.1:c.2553G>A	ENSP00000506819.1:n.2553G>A
ENST00000684602.1:c.*1771G>A	ENSP00000507996.1:n.*1771G>A
ENST00000684667.1:c.2436G>A	ENSP00000507003.1:n.2436G>A
ENST00000268097.10:c.*515G>A MANE Select	ENSP00000268097.6:n.*515G>A
ENST00000268097.9:c.*515G>A	ENSP00000268097.5:n.*515G>A
ENST00000379915.4:c.608+1884G>A	ENSP00000478716.1:n.608+1884G>A
NM_000520.4:c.*515G>A	NP_000511.2:n.*515G>A
NM_000520.5:c.*515G>A	NP_000511.2:n.*515G>A
NM_001318825.1:c.*515G>A	NP_001305754.1:n.*515G>A
NM_000520.6:c.*515G>A MANE Select	NP_000511.2:n.*515G>A
NM_001318825.2:c.*515G>A	NP_001305754.1:n.*515G>A