Canonical Allele Identifier: CA2629339595

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343556-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343556G>T , CM000677.2:g.72343556G>T	GRCh38
NC_000015.9:g.72635897G>T , CM000677.1:g.72635897G>T	GRCh37
NC_000015.8:g.70422951G>T	NCBI36
NG_009017.1:g.37624C>A
NG_009017.2:g.37624C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2338C>A
ENST00000682235.1:n.2134C>A
ENST00000682461.1:c.2217C>A	ENSP00000507308.1:n.2217C>A
ENST00000682653.1:n.4420C>A
ENST00000682721.1:c.*1914C>A	ENSP00000507535.1:n.*1914C>A
ENST00000682843.1:c.*1752C>A	ENSP00000508173.1:n.*1752C>A
ENST00000683133.1:c.2295C>A	ENSP00000508108.1:n.2295C>A
ENST00000683243.1:c.*1264C>A	ENSP00000507042.1:n.*1264C>A
ENST00000683463.1:c.*1600C>A	ENSP00000507986.1:n.*1600C>A
ENST00000683548.1:n.2569C>A
ENST00000683579.1:c.*2009C>A	ENSP00000506867.1:n.*2009C>A
ENST00000683587.1:n.2642C>A
ENST00000683735.1:c.*2509C>A	ENSP00000508336.1:n.*2509C>A
ENST00000683853.1:c.*2221C>A	ENSP00000506834.1:n.*2221C>A
ENST00000684125.1:c.*771C>A	ENSP00000507320.1:n.*771C>A
ENST00000684203.1:n.4560C>A
ENST00000684231.1:c.*1521C>A	ENSP00000507748.1:n.*1521C>A
ENST00000684263.1:c.*1735C>A	ENSP00000508369.1:n.*1735C>A
ENST00000684305.1:c.2559C>A	ENSP00000506819.1:n.2559C>A
ENST00000684602.1:c.*1777C>A	ENSP00000507996.1:n.*1777C>A
ENST00000684667.1:c.2442C>A	ENSP00000507003.1:n.2442C>A
ENST00000268097.10:c.*521C>A MANE Select	ENSP00000268097.6:n.*521C>A
ENST00000268097.9:c.*521C>A	ENSP00000268097.5:n.*521C>A
ENST00000379915.4:c.608+1890C>A	ENSP00000478716.1:n.608+1890C>A
NM_000520.4:c.*521C>A	NP_000511.2:n.*521C>A
NM_000520.5:c.*521C>A	NP_000511.2:n.*521C>A
NM_001318825.1:c.*521C>A	NP_001305754.1:n.*521C>A
NM_000520.6:c.*521C>A MANE Select	NP_000511.2:n.*521C>A
NM_001318825.2:c.*521C>A	NP_001305754.1:n.*521C>A