Canonical Allele Identifier: CA2629339477

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343468-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343468A>T , CM000677.2:g.72343468A>T	GRCh38
NC_000015.9:g.72635809A>T , CM000677.1:g.72635809A>T	GRCh37
NC_000015.8:g.70422863A>T	NCBI36
NG_009017.1:g.37712T>A
NG_009017.2:g.37712T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.2426T>A
ENST00000682235.1:n.2222T>A
ENST00000682461.1:c.2305T>A	ENSP00000507308.1:n.2305T>A
ENST00000682653.1:n.4508T>A
ENST00000682721.1:c.*2002T>A	ENSP00000507535.1:n.*2002T>A
ENST00000682843.1:c.*1840T>A	ENSP00000508173.1:n.*1840T>A
ENST00000683133.1:c.2383T>A	ENSP00000508108.1:n.2383T>A
ENST00000683243.1:c.*1352T>A	ENSP00000507042.1:n.*1352T>A
ENST00000683463.1:c.*1688T>A	ENSP00000507986.1:n.*1688T>A
ENST00000683548.1:n.2657T>A
ENST00000683579.1:c.*2097T>A	ENSP00000506867.1:n.*2097T>A
ENST00000683587.1:n.2730T>A
ENST00000683735.1:c.*2597T>A	ENSP00000508336.1:n.*2597T>A
ENST00000683853.1:c.*2309T>A	ENSP00000506834.1:n.*2309T>A
ENST00000684125.1:c.*859T>A	ENSP00000507320.1:n.*859T>A
ENST00000684203.1:n.4648T>A
ENST00000684231.1:c.*1609T>A	ENSP00000507748.1:n.*1609T>A
ENST00000684263.1:c.*1823T>A	ENSP00000508369.1:n.*1823T>A
ENST00000684305.1:c.2647T>A	ENSP00000506819.1:n.2647T>A
ENST00000684602.1:c.*1865T>A	ENSP00000507996.1:n.*1865T>A
ENST00000684667.1:c.2530T>A	ENSP00000507003.1:n.2530T>A
ENST00000268097.10:c.*609T>A MANE Select	ENSP00000268097.6:n.*609T>A
ENST00000268097.9:c.*609T>A	ENSP00000268097.5:n.*609T>A
ENST00000379915.4:c.608+1978T>A	ENSP00000478716.1:n.608+1978T>A
NM_000520.4:c.*609T>A	NP_000511.2:n.*609T>A
NM_000520.5:c.*609T>A	NP_000511.2:n.*609T>A
NM_001318825.1:c.*609T>A	NP_001305754.1:n.*609T>A
NM_000520.6:c.*609T>A MANE Select	NP_000511.2:n.*609T>A
NM_001318825.2:c.*609T>A	NP_001305754.1:n.*609T>A