Canonical Allele Identifier: CA2629339566

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343541-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343541A>T , CM000677.2:g.72343541A>T	GRCh38
NC_000015.9:g.72635882A>T , CM000677.1:g.72635882A>T	GRCh37
NC_000015.8:g.70422936A>T	NCBI36
NG_009017.1:g.37639T>A
NG_009017.2:g.37639T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2353T>A
ENST00000682235.1:n.2149T>A
ENST00000682461.1:c.2232T>A	ENSP00000507308.1:n.2232T>A
ENST00000682653.1:n.4435T>A
ENST00000682721.1:c.*1929T>A	ENSP00000507535.1:n.*1929T>A
ENST00000682843.1:c.*1767T>A	ENSP00000508173.1:n.*1767T>A
ENST00000683133.1:c.2310T>A	ENSP00000508108.1:n.2310T>A
ENST00000683243.1:c.*1279T>A	ENSP00000507042.1:n.*1279T>A
ENST00000683463.1:c.*1615T>A	ENSP00000507986.1:n.*1615T>A
ENST00000683548.1:n.2584T>A
ENST00000683579.1:c.*2024T>A	ENSP00000506867.1:n.*2024T>A
ENST00000683587.1:n.2657T>A
ENST00000683735.1:c.*2524T>A	ENSP00000508336.1:n.*2524T>A
ENST00000683853.1:c.*2236T>A	ENSP00000506834.1:n.*2236T>A
ENST00000684125.1:c.*786T>A	ENSP00000507320.1:n.*786T>A
ENST00000684203.1:n.4575T>A
ENST00000684231.1:c.*1536T>A	ENSP00000507748.1:n.*1536T>A
ENST00000684263.1:c.*1750T>A	ENSP00000508369.1:n.*1750T>A
ENST00000684305.1:c.2574T>A	ENSP00000506819.1:n.2574T>A
ENST00000684602.1:c.*1792T>A	ENSP00000507996.1:n.*1792T>A
ENST00000684667.1:c.2457T>A	ENSP00000507003.1:n.2457T>A
ENST00000268097.10:c.*536T>A MANE Select	ENSP00000268097.6:n.*536T>A
ENST00000268097.9:c.*536T>A	ENSP00000268097.5:n.*536T>A
ENST00000379915.4:c.608+1905T>A	ENSP00000478716.1:n.608+1905T>A
NM_000520.4:c.*536T>A	NP_000511.2:n.*536T>A
NM_000520.5:c.*536T>A	NP_000511.2:n.*536T>A
NM_001318825.1:c.*536T>A	NP_001305754.1:n.*536T>A
NM_000520.6:c.*536T>A MANE Select	NP_000511.2:n.*536T>A
NM_001318825.2:c.*536T>A	NP_001305754.1:n.*536T>A