Canonical Allele Identifier: CA2186742358

Gene: HEXA

Linked Data

• dbSNP Id: rs2088572363
• gnomAD v4: 15-72343478-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343478T>A , CM000677.2:g.72343478T>A	GRCh38
NC_000015.9:g.72635819T>A , CM000677.1:g.72635819T>A	GRCh37
NC_000015.8:g.70422873T>A	NCBI36
NG_009017.1:g.37702A>T
NG_009017.2:g.37702A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2416A>T
ENST00000682235.1:n.2212A>T
ENST00000682461.1:c.2295A>T	ENSP00000507308.1:n.2295A>T
ENST00000682653.1:n.4498A>T
ENST00000682721.1:c.*1992A>T	ENSP00000507535.1:n.*1992A>T
ENST00000682843.1:c.*1830A>T	ENSP00000508173.1:n.*1830A>T
ENST00000683133.1:c.2373A>T	ENSP00000508108.1:n.2373A>T
ENST00000683243.1:c.*1342A>T	ENSP00000507042.1:n.*1342A>T
ENST00000683463.1:c.*1678A>T	ENSP00000507986.1:n.*1678A>T
ENST00000683548.1:n.2647A>T
ENST00000683579.1:c.*2087A>T	ENSP00000506867.1:n.*2087A>T
ENST00000683587.1:n.2720A>T
ENST00000683735.1:c.*2587A>T	ENSP00000508336.1:n.*2587A>T
ENST00000683853.1:c.*2299A>T	ENSP00000506834.1:n.*2299A>T
ENST00000684125.1:c.*849A>T	ENSP00000507320.1:n.*849A>T
ENST00000684203.1:n.4638A>T
ENST00000684231.1:c.*1599A>T	ENSP00000507748.1:n.*1599A>T
ENST00000684263.1:c.*1813A>T	ENSP00000508369.1:n.*1813A>T
ENST00000684305.1:c.2637A>T	ENSP00000506819.1:n.2637A>T
ENST00000684602.1:c.*1855A>T	ENSP00000507996.1:n.*1855A>T
ENST00000684667.1:c.2520A>T	ENSP00000507003.1:n.2520A>T
ENST00000268097.10:c.*599A>T MANE Select	ENSP00000268097.6:n.*599A>T
ENST00000268097.9:c.*599A>T	ENSP00000268097.5:n.*599A>T
ENST00000379915.4:c.608+1968A>T	ENSP00000478716.1:n.608+1968A>T
NM_000520.4:c.*599A>T	NP_000511.2:n.*599A>T
NM_000520.5:c.*599A>T	NP_000511.2:n.*599A>T
NM_001318825.1:c.*599A>T	NP_001305754.1:n.*599A>T
NM_000520.6:c.*599A>T MANE Select	NP_000511.2:n.*599A>T
NM_001318825.2:c.*599A>T	NP_001305754.1:n.*599A>T