Canonical Allele Identifier: CA2629339727

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343672-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343672G>T , CM000677.2:g.72343672G>T	GRCh38
NC_000015.9:g.72636013G>T , CM000677.1:g.72636013G>T	GRCh37
NC_000015.8:g.70423067G>T	NCBI36
NG_009017.1:g.37508C>A
NG_009017.2:g.37508C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2222C>A
ENST00000682235.1:n.2018C>A
ENST00000682461.1:c.2101C>A	ENSP00000507308.1:n.2101C>A
ENST00000682653.1:n.4304C>A
ENST00000682721.1:c.*1798C>A	ENSP00000507535.1:n.*1798C>A
ENST00000682843.1:c.*1636C>A	ENSP00000508173.1:n.*1636C>A
ENST00000683133.1:c.2179C>A	ENSP00000508108.1:n.2179C>A
ENST00000683243.1:c.*1148C>A	ENSP00000507042.1:n.*1148C>A
ENST00000683463.1:c.*1484C>A	ENSP00000507986.1:n.*1484C>A
ENST00000683548.1:n.2453C>A
ENST00000683579.1:c.*1893C>A	ENSP00000506867.1:n.*1893C>A
ENST00000683587.1:n.2526C>A
ENST00000683735.1:c.*2393C>A	ENSP00000508336.1:n.*2393C>A
ENST00000683853.1:c.*2105C>A	ENSP00000506834.1:n.*2105C>A
ENST00000684125.1:c.*655C>A	ENSP00000507320.1:n.*655C>A
ENST00000684203.1:n.4444C>A
ENST00000684231.1:c.*1405C>A	ENSP00000507748.1:n.*1405C>A
ENST00000684263.1:c.*1619C>A	ENSP00000508369.1:n.*1619C>A
ENST00000684305.1:c.2443C>A	ENSP00000506819.1:n.2443C>A
ENST00000684602.1:c.*1661C>A	ENSP00000507996.1:n.*1661C>A
ENST00000684667.1:c.2326C>A	ENSP00000507003.1:n.2326C>A
ENST00000268097.10:c.*405C>A MANE Select	ENSP00000268097.6:n.*405C>A
ENST00000268097.9:c.*405C>A	ENSP00000268097.5:n.*405C>A
ENST00000379915.4:c.608+1774C>A	ENSP00000478716.1:n.608+1774C>A
NM_000520.4:c.*405C>A	NP_000511.2:n.*405C>A
NM_000520.5:c.*405C>A	NP_000511.2:n.*405C>A
NM_001318825.1:c.*405C>A	NP_001305754.1:n.*405C>A
NM_000520.6:c.*405C>A MANE Select	NP_000511.2:n.*405C>A
NM_001318825.2:c.*405C>A	NP_001305754.1:n.*405C>A