Canonical Allele Identifier: CA10646571

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343502C>T , CM000677.2:g.72343502C>T	GRCh38
NC_000015.9:g.72635843C>T , CM000677.1:g.72635843C>T	GRCh37
NC_000015.8:g.70422897C>T	NCBI36
NG_009017.1:g.37678G>A
NG_009017.2:g.37678G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000520.6:c.*575G>A MANE Select	NP_000511.2:n.*575G>A
ENST00000268097.10:c.*575G>A MANE Select	ENSP00000268097.6:n.*575G>A
NM_000520.4:c.*575G>A	NP_000511.2:n.*575G>A
NM_000520.5:c.*575G>A	NP_000511.2:n.*575G>A
NM_001318825.1:c.*575G>A	NP_001305754.1:n.*575G>A
NM_001318825.2:c.*575G>A	NP_001305754.1:n.*575G>A
ENST00000268097.9:c.*575G>A	ENSP00000268097.5:n.*575G>A
ENST00000379915.4:c.608+1944G>A	ENSP00000478716.1:n.608+1944G>A
ENST00000682064.1:n.2392G>A
ENST00000682235.1:n.2188G>A
ENST00000682461.1:c.2271G>A	ENSP00000507308.1:n.2271G>A
ENST00000682653.1:n.4474G>A
ENST00000682721.1:c.*1968G>A	ENSP00000507535.1:n.*1968G>A
ENST00000682843.1:c.*1806G>A	ENSP00000508173.1:n.*1806G>A
ENST00000683133.1:c.2349G>A	ENSP00000508108.1:n.2349G>A
ENST00000683243.1:c.*1318G>A	ENSP00000507042.1:n.*1318G>A
ENST00000683463.1:c.*1654G>A	ENSP00000507986.1:n.*1654G>A
ENST00000683548.1:n.2623G>A
ENST00000683579.1:c.*2063G>A	ENSP00000506867.1:n.*2063G>A
ENST00000683587.1:n.2696G>A
ENST00000683735.1:c.*2563G>A	ENSP00000508336.1:n.*2563G>A
ENST00000683853.1:c.*2275G>A	ENSP00000506834.1:n.*2275G>A
ENST00000684125.1:c.*825G>A	ENSP00000507320.1:n.*825G>A
ENST00000684203.1:n.4614G>A
ENST00000684231.1:c.*1575G>A	ENSP00000507748.1:n.*1575G>A
ENST00000684263.1:c.*1789G>A	ENSP00000508369.1:n.*1789G>A
ENST00000684305.1:c.2613G>A	ENSP00000506819.1:n.2613G>A
ENST00000684602.1:c.*1831G>A	ENSP00000507996.1:n.*1831G>A
ENST00000684667.1:c.2496G>A	ENSP00000507003.1:n.2496G>A