Canonical Allele Identifier: CA2629339751

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343700-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343700G>A , CM000677.2:g.72343700G>A	GRCh38
NC_000015.9:g.72636041G>A , CM000677.1:g.72636041G>A	GRCh37
NC_000015.8:g.70423095G>A	NCBI36
NG_009017.1:g.37480C>T
NG_009017.2:g.37480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.2194C>T
ENST00000682235.1:n.1990C>T
ENST00000682461.1:c.2073C>T	ENSP00000507308.1:n.2073C>T
ENST00000682653.1:n.4276C>T
ENST00000682721.1:c.*1770C>T	ENSP00000507535.1:n.*1770C>T
ENST00000682843.1:c.*1608C>T	ENSP00000508173.1:n.*1608C>T
ENST00000683133.1:c.2151C>T	ENSP00000508108.1:n.2151C>T
ENST00000683243.1:c.*1120C>T	ENSP00000507042.1:n.*1120C>T
ENST00000683463.1:c.*1456C>T	ENSP00000507986.1:n.*1456C>T
ENST00000683548.1:n.2425C>T
ENST00000683579.1:c.*1865C>T	ENSP00000506867.1:n.*1865C>T
ENST00000683587.1:n.2498C>T
ENST00000683735.1:c.*2365C>T	ENSP00000508336.1:n.*2365C>T
ENST00000683853.1:c.*2077C>T	ENSP00000506834.1:n.*2077C>T
ENST00000684125.1:c.*627C>T	ENSP00000507320.1:n.*627C>T
ENST00000684203.1:n.4416C>T
ENST00000684231.1:c.*1377C>T	ENSP00000507748.1:n.*1377C>T
ENST00000684263.1:c.*1591C>T	ENSP00000508369.1:n.*1591C>T
ENST00000684305.1:c.2415C>T	ENSP00000506819.1:n.2415C>T
ENST00000684602.1:c.*1633C>T	ENSP00000507996.1:n.*1633C>T
ENST00000684667.1:c.2298C>T	ENSP00000507003.1:n.2298C>T
ENST00000268097.10:c.*377C>T MANE Select	ENSP00000268097.6:n.*377C>T
ENST00000268097.9:c.*377C>T	ENSP00000268097.5:n.*377C>T
ENST00000379915.4:c.608+1746C>T	ENSP00000478716.1:n.608+1746C>T
NM_000520.4:c.*377C>T	NP_000511.2:n.*377C>T
NM_000520.5:c.*377C>T	NP_000511.2:n.*377C>T
NM_001318825.1:c.*377C>T	NP_001305754.1:n.*377C>T
NM_000520.6:c.*377C>T MANE Select	NP_000511.2:n.*377C>T
NM_001318825.2:c.*377C>T	NP_001305754.1:n.*377C>T