Canonical Allele Identifier: CA2629339571

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343544-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343544C>A , CM000677.2:g.72343544C>A	GRCh38
NC_000015.9:g.72635885C>A , CM000677.1:g.72635885C>A	GRCh37
NC_000015.8:g.70422939C>A	NCBI36
NG_009017.1:g.37636G>T
NG_009017.2:g.37636G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2350G>T
ENST00000682235.1:n.2146G>T
ENST00000682461.1:c.2229G>T	ENSP00000507308.1:n.2229G>T
ENST00000682653.1:n.4432G>T
ENST00000682721.1:c.*1926G>T	ENSP00000507535.1:n.*1926G>T
ENST00000682843.1:c.*1764G>T	ENSP00000508173.1:n.*1764G>T
ENST00000683133.1:c.2307G>T	ENSP00000508108.1:n.2307G>T
ENST00000683243.1:c.*1276G>T	ENSP00000507042.1:n.*1276G>T
ENST00000683463.1:c.*1612G>T	ENSP00000507986.1:n.*1612G>T
ENST00000683548.1:n.2581G>T
ENST00000683579.1:c.*2021G>T	ENSP00000506867.1:n.*2021G>T
ENST00000683587.1:n.2654G>T
ENST00000683735.1:c.*2521G>T	ENSP00000508336.1:n.*2521G>T
ENST00000683853.1:c.*2233G>T	ENSP00000506834.1:n.*2233G>T
ENST00000684125.1:c.*783G>T	ENSP00000507320.1:n.*783G>T
ENST00000684203.1:n.4572G>T
ENST00000684231.1:c.*1533G>T	ENSP00000507748.1:n.*1533G>T
ENST00000684263.1:c.*1747G>T	ENSP00000508369.1:n.*1747G>T
ENST00000684305.1:c.2571G>T	ENSP00000506819.1:n.2571G>T
ENST00000684602.1:c.*1789G>T	ENSP00000507996.1:n.*1789G>T
ENST00000684667.1:c.2454G>T	ENSP00000507003.1:n.2454G>T
ENST00000268097.10:c.*533G>T MANE Select	ENSP00000268097.6:n.*533G>T
ENST00000268097.9:c.*533G>T	ENSP00000268097.5:n.*533G>T
ENST00000379915.4:c.608+1902G>T	ENSP00000478716.1:n.608+1902G>T
NM_000520.4:c.*533G>T	NP_000511.2:n.*533G>T
NM_000520.5:c.*533G>T	NP_000511.2:n.*533G>T
NM_001318825.1:c.*533G>T	NP_001305754.1:n.*533G>T
NM_000520.6:c.*533G>T MANE Select	NP_000511.2:n.*533G>T
NM_001318825.2:c.*533G>T	NP_001305754.1:n.*533G>T