Canonical Allele Identifier: CA2629339706

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343642-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343642C>A , CM000677.2:g.72343642C>A	GRCh38
NC_000015.9:g.72635983C>A , CM000677.1:g.72635983C>A	GRCh37
NC_000015.8:g.70423037C>A	NCBI36
NG_009017.1:g.37538G>T
NG_009017.2:g.37538G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2252G>T
ENST00000682235.1:n.2048G>T
ENST00000682461.1:c.2131G>T	ENSP00000507308.1:n.2131G>T
ENST00000682653.1:n.4334G>T
ENST00000682721.1:c.*1828G>T	ENSP00000507535.1:n.*1828G>T
ENST00000682843.1:c.*1666G>T	ENSP00000508173.1:n.*1666G>T
ENST00000683133.1:c.2209G>T	ENSP00000508108.1:n.2209G>T
ENST00000683243.1:c.*1178G>T	ENSP00000507042.1:n.*1178G>T
ENST00000683463.1:c.*1514G>T	ENSP00000507986.1:n.*1514G>T
ENST00000683548.1:n.2483G>T
ENST00000683579.1:c.*1923G>T	ENSP00000506867.1:n.*1923G>T
ENST00000683587.1:n.2556G>T
ENST00000683735.1:c.*2423G>T	ENSP00000508336.1:n.*2423G>T
ENST00000683853.1:c.*2135G>T	ENSP00000506834.1:n.*2135G>T
ENST00000684125.1:c.*685G>T	ENSP00000507320.1:n.*685G>T
ENST00000684203.1:n.4474G>T
ENST00000684231.1:c.*1435G>T	ENSP00000507748.1:n.*1435G>T
ENST00000684263.1:c.*1649G>T	ENSP00000508369.1:n.*1649G>T
ENST00000684305.1:c.2473G>T	ENSP00000506819.1:n.2473G>T
ENST00000684602.1:c.*1691G>T	ENSP00000507996.1:n.*1691G>T
ENST00000684667.1:c.2356G>T	ENSP00000507003.1:n.2356G>T
ENST00000268097.10:c.*435G>T MANE Select	ENSP00000268097.6:n.*435G>T
ENST00000268097.9:c.*435G>T	ENSP00000268097.5:n.*435G>T
ENST00000379915.4:c.608+1804G>T	ENSP00000478716.1:n.608+1804G>T
NM_000520.4:c.*435G>T	NP_000511.2:n.*435G>T
NM_000520.5:c.*435G>T	NP_000511.2:n.*435G>T
NM_001318825.1:c.*435G>T	NP_001305754.1:n.*435G>T
NM_000520.6:c.*435G>T MANE Select	NP_000511.2:n.*435G>T
NM_001318825.2:c.*435G>T	NP_001305754.1:n.*435G>T