Canonical Allele Identifier: CA2629339747

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343693-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343693G>T , CM000677.2:g.72343693G>T	GRCh38
NC_000015.9:g.72636034G>T , CM000677.1:g.72636034G>T	GRCh37
NC_000015.8:g.70423088G>T	NCBI36
NG_009017.1:g.37487C>A
NG_009017.2:g.37487C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2201C>A
ENST00000682235.1:n.1997C>A
ENST00000682461.1:c.2080C>A	ENSP00000507308.1:n.2080C>A
ENST00000682653.1:n.4283C>A
ENST00000682721.1:c.*1777C>A	ENSP00000507535.1:n.*1777C>A
ENST00000682843.1:c.*1615C>A	ENSP00000508173.1:n.*1615C>A
ENST00000683133.1:c.2158C>A	ENSP00000508108.1:n.2158C>A
ENST00000683243.1:c.*1127C>A	ENSP00000507042.1:n.*1127C>A
ENST00000683463.1:c.*1463C>A	ENSP00000507986.1:n.*1463C>A
ENST00000683548.1:n.2432C>A
ENST00000683579.1:c.*1872C>A	ENSP00000506867.1:n.*1872C>A
ENST00000683587.1:n.2505C>A
ENST00000683735.1:c.*2372C>A	ENSP00000508336.1:n.*2372C>A
ENST00000683853.1:c.*2084C>A	ENSP00000506834.1:n.*2084C>A
ENST00000684125.1:c.*634C>A	ENSP00000507320.1:n.*634C>A
ENST00000684203.1:n.4423C>A
ENST00000684231.1:c.*1384C>A	ENSP00000507748.1:n.*1384C>A
ENST00000684263.1:c.*1598C>A	ENSP00000508369.1:n.*1598C>A
ENST00000684305.1:c.2422C>A	ENSP00000506819.1:n.2422C>A
ENST00000684602.1:c.*1640C>A	ENSP00000507996.1:n.*1640C>A
ENST00000684667.1:c.2305C>A	ENSP00000507003.1:n.2305C>A
ENST00000268097.10:c.*384C>A MANE Select	ENSP00000268097.6:n.*384C>A
ENST00000268097.9:c.*384C>A	ENSP00000268097.5:n.*384C>A
ENST00000379915.4:c.608+1753C>A	ENSP00000478716.1:n.608+1753C>A
NM_000520.4:c.*384C>A	NP_000511.2:n.*384C>A
NM_000520.5:c.*384C>A	NP_000511.2:n.*384C>A
NM_001318825.1:c.*384C>A	NP_001305754.1:n.*384C>A
NM_000520.6:c.*384C>A MANE Select	NP_000511.2:n.*384C>A
NM_001318825.2:c.*384C>A	NP_001305754.1:n.*384C>A