Canonical Allele Identifier: CA2629339732

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343678-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343678T>C , CM000677.2:g.72343678T>C	GRCh38
NC_000015.9:g.72636019T>C , CM000677.1:g.72636019T>C	GRCh37
NC_000015.8:g.70423073T>C	NCBI36
NG_009017.1:g.37502A>G
NG_009017.2:g.37502A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.2216A>G
ENST00000682235.1:n.2012A>G
ENST00000682461.1:c.2095A>G	ENSP00000507308.1:n.2095A>G
ENST00000682653.1:n.4298A>G
ENST00000682721.1:c.*1792A>G	ENSP00000507535.1:n.*1792A>G
ENST00000682843.1:c.*1630A>G	ENSP00000508173.1:n.*1630A>G
ENST00000683133.1:c.2173A>G	ENSP00000508108.1:n.2173A>G
ENST00000683243.1:c.*1142A>G	ENSP00000507042.1:n.*1142A>G
ENST00000683463.1:c.*1478A>G	ENSP00000507986.1:n.*1478A>G
ENST00000683548.1:n.2447A>G
ENST00000683579.1:c.*1887A>G	ENSP00000506867.1:n.*1887A>G
ENST00000683587.1:n.2520A>G
ENST00000683735.1:c.*2387A>G	ENSP00000508336.1:n.*2387A>G
ENST00000683853.1:c.*2099A>G	ENSP00000506834.1:n.*2099A>G
ENST00000684125.1:c.*649A>G	ENSP00000507320.1:n.*649A>G
ENST00000684203.1:n.4438A>G
ENST00000684231.1:c.*1399A>G	ENSP00000507748.1:n.*1399A>G
ENST00000684263.1:c.*1613A>G	ENSP00000508369.1:n.*1613A>G
ENST00000684305.1:c.2437A>G	ENSP00000506819.1:n.2437A>G
ENST00000684602.1:c.*1655A>G	ENSP00000507996.1:n.*1655A>G
ENST00000684667.1:c.2320A>G	ENSP00000507003.1:n.2320A>G
ENST00000268097.10:c.*399A>G MANE Select	ENSP00000268097.6:n.*399A>G
ENST00000268097.9:c.*399A>G	ENSP00000268097.5:n.*399A>G
ENST00000379915.4:c.608+1768A>G	ENSP00000478716.1:n.608+1768A>G
NM_000520.4:c.*399A>G	NP_000511.2:n.*399A>G
NM_000520.5:c.*399A>G	NP_000511.2:n.*399A>G
NM_001318825.1:c.*399A>G	NP_001305754.1:n.*399A>G
NM_000520.6:c.*399A>G MANE Select	NP_000511.2:n.*399A>G
NM_001318825.2:c.*399A>G	NP_001305754.1:n.*399A>G