Canonical Allele Identifier: CA2629339723

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343669-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343669T>C , CM000677.2:g.72343669T>C	GRCh38
NC_000015.9:g.72636010T>C , CM000677.1:g.72636010T>C	GRCh37
NC_000015.8:g.70423064T>C	NCBI36
NG_009017.1:g.37511A>G
NG_009017.2:g.37511A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2225A>G
ENST00000682235.1:n.2021A>G
ENST00000682461.1:c.2104A>G	ENSP00000507308.1:n.2104A>G
ENST00000682653.1:n.4307A>G
ENST00000682721.1:c.*1801A>G	ENSP00000507535.1:n.*1801A>G
ENST00000682843.1:c.*1639A>G	ENSP00000508173.1:n.*1639A>G
ENST00000683133.1:c.2182A>G	ENSP00000508108.1:n.2182A>G
ENST00000683243.1:c.*1151A>G	ENSP00000507042.1:n.*1151A>G
ENST00000683463.1:c.*1487A>G	ENSP00000507986.1:n.*1487A>G
ENST00000683548.1:n.2456A>G
ENST00000683579.1:c.*1896A>G	ENSP00000506867.1:n.*1896A>G
ENST00000683587.1:n.2529A>G
ENST00000683735.1:c.*2396A>G	ENSP00000508336.1:n.*2396A>G
ENST00000683853.1:c.*2108A>G	ENSP00000506834.1:n.*2108A>G
ENST00000684125.1:c.*658A>G	ENSP00000507320.1:n.*658A>G
ENST00000684203.1:n.4447A>G
ENST00000684231.1:c.*1408A>G	ENSP00000507748.1:n.*1408A>G
ENST00000684263.1:c.*1622A>G	ENSP00000508369.1:n.*1622A>G
ENST00000684305.1:c.2446A>G	ENSP00000506819.1:n.2446A>G
ENST00000684602.1:c.*1664A>G	ENSP00000507996.1:n.*1664A>G
ENST00000684667.1:c.2329A>G	ENSP00000507003.1:n.2329A>G
ENST00000268097.10:c.*408A>G MANE Select	ENSP00000268097.6:n.*408A>G
ENST00000268097.9:c.*408A>G	ENSP00000268097.5:n.*408A>G
ENST00000379915.4:c.608+1777A>G	ENSP00000478716.1:n.608+1777A>G
NM_000520.4:c.*408A>G	NP_000511.2:n.*408A>G
NM_000520.5:c.*408A>G	NP_000511.2:n.*408A>G
NM_001318825.1:c.*408A>G	NP_001305754.1:n.*408A>G
NM_000520.6:c.*408A>G MANE Select	NP_000511.2:n.*408A>G
NM_001318825.2:c.*408A>G	NP_001305754.1:n.*408A>G