Canonical Allele Identifier: CA2629339483

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343473-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343473G>T , CM000677.2:g.72343473G>T	GRCh38
NC_000015.9:g.72635814G>T , CM000677.1:g.72635814G>T	GRCh37
NC_000015.8:g.70422868G>T	NCBI36
NG_009017.1:g.37707C>A
NG_009017.2:g.37707C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.2421C>A
ENST00000682235.1:n.2217C>A
ENST00000682461.1:c.2300C>A	ENSP00000507308.1:n.2300C>A
ENST00000682653.1:n.4503C>A
ENST00000682721.1:c.*1997C>A	ENSP00000507535.1:n.*1997C>A
ENST00000682843.1:c.*1835C>A	ENSP00000508173.1:n.*1835C>A
ENST00000683133.1:c.2378C>A	ENSP00000508108.1:n.2378C>A
ENST00000683243.1:c.*1347C>A	ENSP00000507042.1:n.*1347C>A
ENST00000683463.1:c.*1683C>A	ENSP00000507986.1:n.*1683C>A
ENST00000683548.1:n.2652C>A
ENST00000683579.1:c.*2092C>A	ENSP00000506867.1:n.*2092C>A
ENST00000683587.1:n.2725C>A
ENST00000683735.1:c.*2592C>A	ENSP00000508336.1:n.*2592C>A
ENST00000683853.1:c.*2304C>A	ENSP00000506834.1:n.*2304C>A
ENST00000684125.1:c.*854C>A	ENSP00000507320.1:n.*854C>A
ENST00000684203.1:n.4643C>A
ENST00000684231.1:c.*1604C>A	ENSP00000507748.1:n.*1604C>A
ENST00000684263.1:c.*1818C>A	ENSP00000508369.1:n.*1818C>A
ENST00000684305.1:c.2642C>A	ENSP00000506819.1:n.2642C>A
ENST00000684602.1:c.*1860C>A	ENSP00000507996.1:n.*1860C>A
ENST00000684667.1:c.2525C>A	ENSP00000507003.1:n.2525C>A
ENST00000268097.10:c.*604C>A MANE Select	ENSP00000268097.6:n.*604C>A
ENST00000268097.9:c.*604C>A	ENSP00000268097.5:n.*604C>A
ENST00000379915.4:c.608+1973C>A	ENSP00000478716.1:n.608+1973C>A
NM_000520.4:c.*604C>A	NP_000511.2:n.*604C>A
NM_000520.5:c.*604C>A	NP_000511.2:n.*604C>A
NM_001318825.1:c.*604C>A	NP_001305754.1:n.*604C>A
NM_000520.6:c.*604C>A MANE Select	NP_000511.2:n.*604C>A
NM_001318825.2:c.*604C>A	NP_001305754.1:n.*604C>A