Canonical Allele Identifier: CA2629339728

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343673-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343673C>T , CM000677.2:g.72343673C>T	GRCh38
NC_000015.9:g.72636014C>T , CM000677.1:g.72636014C>T	GRCh37
NC_000015.8:g.70423068C>T	NCBI36
NG_009017.1:g.37507G>A
NG_009017.2:g.37507G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2221G>A
ENST00000682235.1:n.2017G>A
ENST00000682461.1:c.2100G>A	ENSP00000507308.1:n.2100G>A
ENST00000682653.1:n.4303G>A
ENST00000682721.1:c.*1797G>A	ENSP00000507535.1:n.*1797G>A
ENST00000682843.1:c.*1635G>A	ENSP00000508173.1:n.*1635G>A
ENST00000683133.1:c.2178G>A	ENSP00000508108.1:n.2178G>A
ENST00000683243.1:c.*1147G>A	ENSP00000507042.1:n.*1147G>A
ENST00000683463.1:c.*1483G>A	ENSP00000507986.1:n.*1483G>A
ENST00000683548.1:n.2452G>A
ENST00000683579.1:c.*1892G>A	ENSP00000506867.1:n.*1892G>A
ENST00000683587.1:n.2525G>A
ENST00000683735.1:c.*2392G>A	ENSP00000508336.1:n.*2392G>A
ENST00000683853.1:c.*2104G>A	ENSP00000506834.1:n.*2104G>A
ENST00000684125.1:c.*654G>A	ENSP00000507320.1:n.*654G>A
ENST00000684203.1:n.4443G>A
ENST00000684231.1:c.*1404G>A	ENSP00000507748.1:n.*1404G>A
ENST00000684263.1:c.*1618G>A	ENSP00000508369.1:n.*1618G>A
ENST00000684305.1:c.2442G>A	ENSP00000506819.1:n.2442G>A
ENST00000684602.1:c.*1660G>A	ENSP00000507996.1:n.*1660G>A
ENST00000684667.1:c.2325G>A	ENSP00000507003.1:n.2325G>A
ENST00000268097.10:c.*404G>A MANE Select	ENSP00000268097.6:n.*404G>A
ENST00000268097.9:c.*404G>A	ENSP00000268097.5:n.*404G>A
ENST00000379915.4:c.608+1773G>A	ENSP00000478716.1:n.608+1773G>A
NM_000520.4:c.*404G>A	NP_000511.2:n.*404G>A
NM_000520.5:c.*404G>A	NP_000511.2:n.*404G>A
NM_001318825.1:c.*404G>A	NP_001305754.1:n.*404G>A
NM_000520.6:c.*404G>A MANE Select	NP_000511.2:n.*404G>A
NM_001318825.2:c.*404G>A	NP_001305754.1:n.*404G>A