Canonical Allele Identifier: CA2629339586

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343553-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343553G>C , CM000677.2:g.72343553G>C	GRCh38
NC_000015.9:g.72635894G>C , CM000677.1:g.72635894G>C	GRCh37
NC_000015.8:g.70422948G>C	NCBI36
NG_009017.1:g.37627C>G
NG_009017.2:g.37627C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2341C>G
ENST00000682235.1:n.2137C>G
ENST00000682461.1:c.2220C>G	ENSP00000507308.1:n.2220C>G
ENST00000682653.1:n.4423C>G
ENST00000682721.1:c.*1917C>G	ENSP00000507535.1:n.*1917C>G
ENST00000682843.1:c.*1755C>G	ENSP00000508173.1:n.*1755C>G
ENST00000683133.1:c.2298C>G	ENSP00000508108.1:n.2298C>G
ENST00000683243.1:c.*1267C>G	ENSP00000507042.1:n.*1267C>G
ENST00000683463.1:c.*1603C>G	ENSP00000507986.1:n.*1603C>G
ENST00000683548.1:n.2572C>G
ENST00000683579.1:c.*2012C>G	ENSP00000506867.1:n.*2012C>G
ENST00000683587.1:n.2645C>G
ENST00000683735.1:c.*2512C>G	ENSP00000508336.1:n.*2512C>G
ENST00000683853.1:c.*2224C>G	ENSP00000506834.1:n.*2224C>G
ENST00000684125.1:c.*774C>G	ENSP00000507320.1:n.*774C>G
ENST00000684203.1:n.4563C>G
ENST00000684231.1:c.*1524C>G	ENSP00000507748.1:n.*1524C>G
ENST00000684263.1:c.*1738C>G	ENSP00000508369.1:n.*1738C>G
ENST00000684305.1:c.2562C>G	ENSP00000506819.1:n.2562C>G
ENST00000684602.1:c.*1780C>G	ENSP00000507996.1:n.*1780C>G
ENST00000684667.1:c.2445C>G	ENSP00000507003.1:n.2445C>G
ENST00000268097.10:c.*524C>G MANE Select	ENSP00000268097.6:n.*524C>G
ENST00000268097.9:c.*524C>G	ENSP00000268097.5:n.*524C>G
ENST00000379915.4:c.608+1893C>G	ENSP00000478716.1:n.608+1893C>G
NM_000520.4:c.*524C>G	NP_000511.2:n.*524C>G
NM_000520.5:c.*524C>G	NP_000511.2:n.*524C>G
NM_001318825.1:c.*524C>G	NP_001305754.1:n.*524C>G
NM_000520.6:c.*524C>G MANE Select	NP_000511.2:n.*524C>G
NM_001318825.2:c.*524C>G	NP_001305754.1:n.*524C>G