Canonical Allele Identifier: CA2629339467

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343455-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343455T>A , CM000677.2:g.72343455T>A	GRCh38
NC_000015.9:g.72635796T>A , CM000677.1:g.72635796T>A	GRCh37
NC_000015.8:g.70422850T>A	NCBI36
NG_009017.1:g.37725A>T
NG_009017.2:g.37725A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.2439A>T
ENST00000682235.1:n.2235A>T
ENST00000682461.1:c.2318A>T	ENSP00000507308.1:n.2318A>T
ENST00000682721.1:c.*2015A>T	ENSP00000507535.1:n.*2015A>T
ENST00000682843.1:c.*1853A>T	ENSP00000508173.1:n.*1853A>T
ENST00000683133.1:c.2396A>T	ENSP00000508108.1:n.2396A>T
ENST00000683243.1:c.*1365A>T	ENSP00000507042.1:n.*1365A>T
ENST00000683463.1:c.*1701A>T	ENSP00000507986.1:n.*1701A>T
ENST00000683548.1:n.2670A>T
ENST00000683579.1:c.*2110A>T	ENSP00000506867.1:n.*2110A>T
ENST00000683587.1:n.2743A>T
ENST00000683735.1:c.*2610A>T	ENSP00000508336.1:n.*2610A>T
ENST00000683853.1:c.*2322A>T	ENSP00000506834.1:n.*2322A>T
ENST00000684125.1:c.*872A>T	ENSP00000507320.1:n.*872A>T
ENST00000684203.1:n.4661A>T
ENST00000684231.1:c.*1622A>T	ENSP00000507748.1:n.*1622A>T
ENST00000684263.1:c.*1836A>T	ENSP00000508369.1:n.*1836A>T
ENST00000684305.1:c.2660A>T	ENSP00000506819.1:n.2660A>T
ENST00000684602.1:c.*1878A>T	ENSP00000507996.1:n.*1878A>T
ENST00000684667.1:c.2543A>T	ENSP00000507003.1:n.2543A>T
ENST00000268097.10:c.*622A>T MANE Select	ENSP00000268097.6:n.*622A>T
ENST00000268097.9:c.*622A>T	ENSP00000268097.5:n.*622A>T
ENST00000379915.4:c.608+1991A>T	ENSP00000478716.1:n.608+1991A>T
NM_000520.4:c.*622A>T	NP_000511.2:n.*622A>T
NM_000520.5:c.*622A>T	NP_000511.2:n.*622A>T
NM_001318825.1:c.*622A>T	NP_001305754.1:n.*622A>T
NM_000520.6:c.*622A>T MANE Select	NP_000511.2:n.*622A>T
NM_001318825.2:c.*622A>T	NP_001305754.1:n.*622A>T