Canonical Allele Identifier: CA2629339475

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343466-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343466A>T , CM000677.2:g.72343466A>T	GRCh38
NC_000015.9:g.72635807A>T , CM000677.1:g.72635807A>T	GRCh37
NC_000015.8:g.70422861A>T	NCBI36
NG_009017.1:g.37714T>A
NG_009017.2:g.37714T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2428T>A
ENST00000682235.1:n.2224T>A
ENST00000682461.1:c.2307T>A	ENSP00000507308.1:n.2307T>A
ENST00000682653.1:n.4510T>A
ENST00000682721.1:c.*2004T>A	ENSP00000507535.1:n.*2004T>A
ENST00000682843.1:c.*1842T>A	ENSP00000508173.1:n.*1842T>A
ENST00000683133.1:c.2385T>A	ENSP00000508108.1:n.2385T>A
ENST00000683243.1:c.*1354T>A	ENSP00000507042.1:n.*1354T>A
ENST00000683463.1:c.*1690T>A	ENSP00000507986.1:n.*1690T>A
ENST00000683548.1:n.2659T>A
ENST00000683579.1:c.*2099T>A	ENSP00000506867.1:n.*2099T>A
ENST00000683587.1:n.2732T>A
ENST00000683735.1:c.*2599T>A	ENSP00000508336.1:n.*2599T>A
ENST00000683853.1:c.*2311T>A	ENSP00000506834.1:n.*2311T>A
ENST00000684125.1:c.*861T>A	ENSP00000507320.1:n.*861T>A
ENST00000684203.1:n.4650T>A
ENST00000684231.1:c.*1611T>A	ENSP00000507748.1:n.*1611T>A
ENST00000684263.1:c.*1825T>A	ENSP00000508369.1:n.*1825T>A
ENST00000684305.1:c.2649T>A	ENSP00000506819.1:n.2649T>A
ENST00000684602.1:c.*1867T>A	ENSP00000507996.1:n.*1867T>A
ENST00000684667.1:c.2532T>A	ENSP00000507003.1:n.2532T>A
ENST00000268097.10:c.*611T>A MANE Select	ENSP00000268097.6:n.*611T>A
ENST00000268097.9:c.*611T>A	ENSP00000268097.5:n.*611T>A
ENST00000379915.4:c.608+1980T>A	ENSP00000478716.1:n.608+1980T>A
NM_000520.4:c.*611T>A	NP_000511.2:n.*611T>A
NM_000520.5:c.*611T>A	NP_000511.2:n.*611T>A
NM_001318825.1:c.*611T>A	NP_001305754.1:n.*611T>A
NM_000520.6:c.*611T>A MANE Select	NP_000511.2:n.*611T>A
NM_001318825.2:c.*611T>A	NP_001305754.1:n.*611T>A