Canonical Allele Identifier: CA2629339567

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343542-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343542T>A , CM000677.2:g.72343542T>A	GRCh38
NC_000015.9:g.72635883T>A , CM000677.1:g.72635883T>A	GRCh37
NC_000015.8:g.70422937T>A	NCBI36
NG_009017.1:g.37638A>T
NG_009017.2:g.37638A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2352A>T
ENST00000682235.1:n.2148A>T
ENST00000682461.1:c.2231A>T	ENSP00000507308.1:n.2231A>T
ENST00000682653.1:n.4434A>T
ENST00000682721.1:c.*1928A>T	ENSP00000507535.1:n.*1928A>T
ENST00000682843.1:c.*1766A>T	ENSP00000508173.1:n.*1766A>T
ENST00000683133.1:c.2309A>T	ENSP00000508108.1:n.2309A>T
ENST00000683243.1:c.*1278A>T	ENSP00000507042.1:n.*1278A>T
ENST00000683463.1:c.*1614A>T	ENSP00000507986.1:n.*1614A>T
ENST00000683548.1:n.2583A>T
ENST00000683579.1:c.*2023A>T	ENSP00000506867.1:n.*2023A>T
ENST00000683587.1:n.2656A>T
ENST00000683735.1:c.*2523A>T	ENSP00000508336.1:n.*2523A>T
ENST00000683853.1:c.*2235A>T	ENSP00000506834.1:n.*2235A>T
ENST00000684125.1:c.*785A>T	ENSP00000507320.1:n.*785A>T
ENST00000684203.1:n.4574A>T
ENST00000684231.1:c.*1535A>T	ENSP00000507748.1:n.*1535A>T
ENST00000684263.1:c.*1749A>T	ENSP00000508369.1:n.*1749A>T
ENST00000684305.1:c.2573A>T	ENSP00000506819.1:n.2573A>T
ENST00000684602.1:c.*1791A>T	ENSP00000507996.1:n.*1791A>T
ENST00000684667.1:c.2456A>T	ENSP00000507003.1:n.2456A>T
ENST00000268097.10:c.*535A>T MANE Select	ENSP00000268097.6:n.*535A>T
ENST00000268097.9:c.*535A>T	ENSP00000268097.5:n.*535A>T
ENST00000379915.4:c.608+1904A>T	ENSP00000478716.1:n.608+1904A>T
NM_000520.4:c.*535A>T	NP_000511.2:n.*535A>T
NM_000520.5:c.*535A>T	NP_000511.2:n.*535A>T
NM_001318825.1:c.*535A>T	NP_001305754.1:n.*535A>T
NM_000520.6:c.*535A>T MANE Select	NP_000511.2:n.*535A>T
NM_001318825.2:c.*535A>T	NP_001305754.1:n.*535A>T