Canonical Allele Identifier: CA2804700299

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343469T>A , CM000677.2:g.72343469T>A	GRCh38
NC_000015.9:g.72635810T>A , CM000677.1:g.72635810T>A	GRCh37
NC_000015.8:g.70422864T>A	NCBI36
NG_009017.1:g.37711A>T
NG_009017.2:g.37711A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.2425A>T
ENST00000682235.1:n.2221A>T
ENST00000682461.1:c.2304A>T	ENSP00000507308.1:n.2304A>T
ENST00000682653.1:n.4507A>T
ENST00000682721.1:c.*2001A>T	ENSP00000507535.1:n.*2001A>T
ENST00000682843.1:c.*1839A>T	ENSP00000508173.1:n.*1839A>T
ENST00000683133.1:c.2382A>T	ENSP00000508108.1:n.2382A>T
ENST00000683243.1:c.*1351A>T	ENSP00000507042.1:n.*1351A>T
ENST00000683463.1:c.*1687A>T	ENSP00000507986.1:n.*1687A>T
ENST00000683548.1:n.2656A>T
ENST00000683579.1:c.*2096A>T	ENSP00000506867.1:n.*2096A>T
ENST00000683587.1:n.2729A>T
ENST00000683735.1:c.*2596A>T	ENSP00000508336.1:n.*2596A>T
ENST00000683853.1:c.*2308A>T	ENSP00000506834.1:n.*2308A>T
ENST00000684125.1:c.*858A>T	ENSP00000507320.1:n.*858A>T
ENST00000684203.1:n.4647A>T
ENST00000684231.1:c.*1608A>T	ENSP00000507748.1:n.*1608A>T
ENST00000684263.1:c.*1822A>T	ENSP00000508369.1:n.*1822A>T
ENST00000684305.1:c.2646A>T	ENSP00000506819.1:n.2646A>T
ENST00000684602.1:c.*1864A>T	ENSP00000507996.1:n.*1864A>T
ENST00000684667.1:c.2529A>T	ENSP00000507003.1:n.2529A>T
ENST00000268097.10:c.*608A>T MANE Select	ENSP00000268097.6:n.*608A>T
ENST00000268097.9:c.*608A>T	ENSP00000268097.5:n.*608A>T
ENST00000379915.4:c.608+1977A>T	ENSP00000478716.1:n.608+1977A>T
NM_000520.4:c.*608A>T	NP_000511.2:n.*608A>T
NM_000520.5:c.*608A>T	NP_000511.2:n.*608A>T
NM_001318825.1:c.*608A>T	NP_001305754.1:n.*608A>T
NM_000520.6:c.*608A>T MANE Select	NP_000511.2:n.*608A>T
NM_001318825.2:c.*608A>T	NP_001305754.1:n.*608A>T