Canonical Allele Identifier: CA2629339591

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343555-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343555G>A , CM000677.2:g.72343555G>A	GRCh38
NC_000015.9:g.72635896G>A , CM000677.1:g.72635896G>A	GRCh37
NC_000015.8:g.70422950G>A	NCBI36
NG_009017.1:g.37625C>T
NG_009017.2:g.37625C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2339C>T
ENST00000682235.1:n.2135C>T
ENST00000682461.1:c.2218C>T	ENSP00000507308.1:n.2218C>T
ENST00000682653.1:n.4421C>T
ENST00000682721.1:c.*1915C>T	ENSP00000507535.1:n.*1915C>T
ENST00000682843.1:c.*1753C>T	ENSP00000508173.1:n.*1753C>T
ENST00000683133.1:c.2296C>T	ENSP00000508108.1:n.2296C>T
ENST00000683243.1:c.*1265C>T	ENSP00000507042.1:n.*1265C>T
ENST00000683463.1:c.*1601C>T	ENSP00000507986.1:n.*1601C>T
ENST00000683548.1:n.2570C>T
ENST00000683579.1:c.*2010C>T	ENSP00000506867.1:n.*2010C>T
ENST00000683587.1:n.2643C>T
ENST00000683735.1:c.*2510C>T	ENSP00000508336.1:n.*2510C>T
ENST00000683853.1:c.*2222C>T	ENSP00000506834.1:n.*2222C>T
ENST00000684125.1:c.*772C>T	ENSP00000507320.1:n.*772C>T
ENST00000684203.1:n.4561C>T
ENST00000684231.1:c.*1522C>T	ENSP00000507748.1:n.*1522C>T
ENST00000684263.1:c.*1736C>T	ENSP00000508369.1:n.*1736C>T
ENST00000684305.1:c.2560C>T	ENSP00000506819.1:n.2560C>T
ENST00000684602.1:c.*1778C>T	ENSP00000507996.1:n.*1778C>T
ENST00000684667.1:c.2443C>T	ENSP00000507003.1:n.2443C>T
ENST00000268097.10:c.*522C>T MANE Select	ENSP00000268097.6:n.*522C>T
ENST00000268097.9:c.*522C>T	ENSP00000268097.5:n.*522C>T
ENST00000379915.4:c.608+1891C>T	ENSP00000478716.1:n.608+1891C>T
NM_000520.4:c.*522C>T	NP_000511.2:n.*522C>T
NM_000520.5:c.*522C>T	NP_000511.2:n.*522C>T
NM_001318825.1:c.*522C>T	NP_001305754.1:n.*522C>T
NM_000520.6:c.*522C>T MANE Select	NP_000511.2:n.*522C>T
NM_001318825.2:c.*522C>T	NP_001305754.1:n.*522C>T