Canonical Allele Identifier: CA2580089932

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72344144C>T , CM000677.2:g.72344144C>T	GRCh38
NC_000015.9:g.72636485C>T , CM000677.1:g.72636485C>T	GRCh37
NC_000015.8:g.70423539C>T	NCBI36
NG_009017.1:g.37036G>A
NG_009017.2:g.37036G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.1754-4G>A
ENST00000682235.1:n.1550-4G>A
ENST00000682461.1:c.1633-4G>A	ENSP00000507308.1:n.1633-4G>A
ENST00000682653.1:n.3832G>A
ENST00000682721.1:c.*1330-4G>A	ENSP00000507535.1:n.*1330-4G>A
ENST00000682843.1:c.*1168-4G>A	ENSP00000508173.1:n.*1168-4G>A
ENST00000683133.1:c.1711-4G>A	ENSP00000508108.1:n.1711-4G>A
ENST00000683243.1:c.*680-4G>A	ENSP00000507042.1:n.*680-4G>A
ENST00000683463.1:c.*1016-4G>A	ENSP00000507986.1:n.*1016-4G>A
ENST00000683548.1:n.1985-4G>A
ENST00000683579.1:c.*1425-4G>A	ENSP00000506867.1:n.*1425-4G>A
ENST00000683587.1:n.2058-4G>A
ENST00000683681.1:c.*205-4G>A	ENSP00000508110.1:n.*205-4G>A
ENST00000683735.1:c.*1925-4G>A	ENSP00000508336.1:n.*1925-4G>A
ENST00000683853.1:c.*1633G>A	ENSP00000506834.1:n.*1633G>A
ENST00000683860.1:c.*647-4G>A	ENSP00000507179.1:n.*647-4G>A
ENST00000684125.1:c.*187-4G>A	ENSP00000507320.1:n.*187-4G>A
ENST00000684203.1:n.3976-4G>A
ENST00000684231.1:c.*937-4G>A	ENSP00000507748.1:n.*937-4G>A
ENST00000684263.1:c.*1151-4G>A	ENSP00000508369.1:n.*1151-4G>A
ENST00000684305.1:c.1975-4G>A	ENSP00000506819.1:n.1975-4G>A
ENST00000684602.1:c.*1193-4G>A	ENSP00000507996.1:n.*1193-4G>A
ENST00000684667.1:c.1858-4G>A	ENSP00000507003.1:n.1858-4G>A
ENST00000268097.10:c.1527-4G>A MANE Select	ENSP00000268097.6:n.1527-4G>A
ENST00000268097.9:c.1527-4G>A	ENSP00000268097.5:n.1527-4G>A
ENST00000379915.4:c.608+1302G>A	ENSP00000478716.1:n.608+1302G>A
ENST00000564677.5:n.319-4G>A
ENST00000565873.1:n.438-4G>A
ENST00000566304.5:c.1560-4G>A	ENSP00000455114.1:n.1560-4G>A
ENST00000567411.5:c.*1048-4G>A	ENSP00000455545.1:n.*1048-4G>A
NM_000520.4:c.1527-4G>A	NP_000511.2:n.1527-4G>A
NM_000520.5:c.1527-4G>A	NP_000511.2:n.1527-4G>A
NM_001318825.1:c.1560-4G>A	NP_001305754.1:n.1560-4G>A
NM_000520.6:c.1527-4G>A MANE Select	NP_000511.2:n.1527-4G>A
NM_001318825.2:c.1560-4G>A	NP_001305754.1:n.1560-4G>A