Canonical Allele Identifier: CA2629339736

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343682-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343682G>T , CM000677.2:g.72343682G>T	GRCh38
NC_000015.9:g.72636023G>T , CM000677.1:g.72636023G>T	GRCh37
NC_000015.8:g.70423077G>T	NCBI36
NG_009017.1:g.37498C>A
NG_009017.2:g.37498C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2212C>A
ENST00000682235.1:n.2008C>A
ENST00000682461.1:c.2091C>A	ENSP00000507308.1:n.2091C>A
ENST00000682653.1:n.4294C>A
ENST00000682721.1:c.*1788C>A	ENSP00000507535.1:n.*1788C>A
ENST00000682843.1:c.*1626C>A	ENSP00000508173.1:n.*1626C>A
ENST00000683133.1:c.2169C>A	ENSP00000508108.1:n.2169C>A
ENST00000683243.1:c.*1138C>A	ENSP00000507042.1:n.*1138C>A
ENST00000683463.1:c.*1474C>A	ENSP00000507986.1:n.*1474C>A
ENST00000683548.1:n.2443C>A
ENST00000683579.1:c.*1883C>A	ENSP00000506867.1:n.*1883C>A
ENST00000683587.1:n.2516C>A
ENST00000683735.1:c.*2383C>A	ENSP00000508336.1:n.*2383C>A
ENST00000683853.1:c.*2095C>A	ENSP00000506834.1:n.*2095C>A
ENST00000684125.1:c.*645C>A	ENSP00000507320.1:n.*645C>A
ENST00000684203.1:n.4434C>A
ENST00000684231.1:c.*1395C>A	ENSP00000507748.1:n.*1395C>A
ENST00000684263.1:c.*1609C>A	ENSP00000508369.1:n.*1609C>A
ENST00000684305.1:c.2433C>A	ENSP00000506819.1:n.2433C>A
ENST00000684602.1:c.*1651C>A	ENSP00000507996.1:n.*1651C>A
ENST00000684667.1:c.2316C>A	ENSP00000507003.1:n.2316C>A
ENST00000268097.10:c.*395C>A MANE Select	ENSP00000268097.6:n.*395C>A
ENST00000268097.9:c.*395C>A	ENSP00000268097.5:n.*395C>A
ENST00000379915.4:c.608+1764C>A	ENSP00000478716.1:n.608+1764C>A
NM_000520.4:c.*395C>A	NP_000511.2:n.*395C>A
NM_000520.5:c.*395C>A	NP_000511.2:n.*395C>A
NM_001318825.1:c.*395C>A	NP_001305754.1:n.*395C>A
NM_000520.6:c.*395C>A MANE Select	NP_000511.2:n.*395C>A
NM_001318825.2:c.*395C>A	NP_001305754.1:n.*395C>A