Canonical Allele Identifier: CA2629339573

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343545-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343545A>T , CM000677.2:g.72343545A>T	GRCh38
NC_000015.9:g.72635886A>T , CM000677.1:g.72635886A>T	GRCh37
NC_000015.8:g.70422940A>T	NCBI36
NG_009017.1:g.37635T>A
NG_009017.2:g.37635T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2349T>A
ENST00000682235.1:n.2145T>A
ENST00000682461.1:c.2228T>A	ENSP00000507308.1:n.2228T>A
ENST00000682653.1:n.4431T>A
ENST00000682721.1:c.*1925T>A	ENSP00000507535.1:n.*1925T>A
ENST00000682843.1:c.*1763T>A	ENSP00000508173.1:n.*1763T>A
ENST00000683133.1:c.2306T>A	ENSP00000508108.1:n.2306T>A
ENST00000683243.1:c.*1275T>A	ENSP00000507042.1:n.*1275T>A
ENST00000683463.1:c.*1611T>A	ENSP00000507986.1:n.*1611T>A
ENST00000683548.1:n.2580T>A
ENST00000683579.1:c.*2020T>A	ENSP00000506867.1:n.*2020T>A
ENST00000683587.1:n.2653T>A
ENST00000683735.1:c.*2520T>A	ENSP00000508336.1:n.*2520T>A
ENST00000683853.1:c.*2232T>A	ENSP00000506834.1:n.*2232T>A
ENST00000684125.1:c.*782T>A	ENSP00000507320.1:n.*782T>A
ENST00000684203.1:n.4571T>A
ENST00000684231.1:c.*1532T>A	ENSP00000507748.1:n.*1532T>A
ENST00000684263.1:c.*1746T>A	ENSP00000508369.1:n.*1746T>A
ENST00000684305.1:c.2570T>A	ENSP00000506819.1:n.2570T>A
ENST00000684602.1:c.*1788T>A	ENSP00000507996.1:n.*1788T>A
ENST00000684667.1:c.2453T>A	ENSP00000507003.1:n.2453T>A
ENST00000268097.10:c.*532T>A MANE Select	ENSP00000268097.6:n.*532T>A
ENST00000268097.9:c.*532T>A	ENSP00000268097.5:n.*532T>A
ENST00000379915.4:c.608+1901T>A	ENSP00000478716.1:n.608+1901T>A
NM_000520.4:c.*532T>A	NP_000511.2:n.*532T>A
NM_000520.5:c.*532T>A	NP_000511.2:n.*532T>A
NM_001318825.1:c.*532T>A	NP_001305754.1:n.*532T>A
NM_000520.6:c.*532T>A MANE Select	NP_000511.2:n.*532T>A
NM_001318825.2:c.*532T>A	NP_001305754.1:n.*532T>A