Canonical Allele Identifier: CA2629339740

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343687-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343687G>T , CM000677.2:g.72343687G>T	GRCh38
NC_000015.9:g.72636028G>T , CM000677.1:g.72636028G>T	GRCh37
NC_000015.8:g.70423082G>T	NCBI36
NG_009017.1:g.37493C>A
NG_009017.2:g.37493C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.2207C>A
ENST00000682235.1:n.2003C>A
ENST00000682461.1:c.2086C>A	ENSP00000507308.1:n.2086C>A
ENST00000682653.1:n.4289C>A
ENST00000682721.1:c.*1783C>A	ENSP00000507535.1:n.*1783C>A
ENST00000682843.1:c.*1621C>A	ENSP00000508173.1:n.*1621C>A
ENST00000683133.1:c.2164C>A	ENSP00000508108.1:n.2164C>A
ENST00000683243.1:c.*1133C>A	ENSP00000507042.1:n.*1133C>A
ENST00000683463.1:c.*1469C>A	ENSP00000507986.1:n.*1469C>A
ENST00000683548.1:n.2438C>A
ENST00000683579.1:c.*1878C>A	ENSP00000506867.1:n.*1878C>A
ENST00000683587.1:n.2511C>A
ENST00000683735.1:c.*2378C>A	ENSP00000508336.1:n.*2378C>A
ENST00000683853.1:c.*2090C>A	ENSP00000506834.1:n.*2090C>A
ENST00000684125.1:c.*640C>A	ENSP00000507320.1:n.*640C>A
ENST00000684203.1:n.4429C>A
ENST00000684231.1:c.*1390C>A	ENSP00000507748.1:n.*1390C>A
ENST00000684263.1:c.*1604C>A	ENSP00000508369.1:n.*1604C>A
ENST00000684305.1:c.2428C>A	ENSP00000506819.1:n.2428C>A
ENST00000684602.1:c.*1646C>A	ENSP00000507996.1:n.*1646C>A
ENST00000684667.1:c.2311C>A	ENSP00000507003.1:n.2311C>A
ENST00000268097.10:c.*390C>A MANE Select	ENSP00000268097.6:n.*390C>A
ENST00000268097.9:c.*390C>A	ENSP00000268097.5:n.*390C>A
ENST00000379915.4:c.608+1759C>A	ENSP00000478716.1:n.608+1759C>A
NM_000520.4:c.*390C>A	NP_000511.2:n.*390C>A
NM_000520.5:c.*390C>A	NP_000511.2:n.*390C>A
NM_001318825.1:c.*390C>A	NP_001305754.1:n.*390C>A
NM_000520.6:c.*390C>A MANE Select	NP_000511.2:n.*390C>A
NM_001318825.2:c.*390C>A	NP_001305754.1:n.*390C>A