Canonical Allele Identifier: CA2629339490

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343477-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343477G>T , CM000677.2:g.72343477G>T	GRCh38
NC_000015.9:g.72635818G>T , CM000677.1:g.72635818G>T	GRCh37
NC_000015.8:g.70422872G>T	NCBI36
NG_009017.1:g.37703C>A
NG_009017.2:g.37703C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.2417C>A
ENST00000682235.1:n.2213C>A
ENST00000682461.1:c.2296C>A	ENSP00000507308.1:n.2296C>A
ENST00000682653.1:n.4499C>A
ENST00000682721.1:c.*1993C>A	ENSP00000507535.1:n.*1993C>A
ENST00000682843.1:c.*1831C>A	ENSP00000508173.1:n.*1831C>A
ENST00000683133.1:c.2374C>A	ENSP00000508108.1:n.2374C>A
ENST00000683243.1:c.*1343C>A	ENSP00000507042.1:n.*1343C>A
ENST00000683463.1:c.*1679C>A	ENSP00000507986.1:n.*1679C>A
ENST00000683548.1:n.2648C>A
ENST00000683579.1:c.*2088C>A	ENSP00000506867.1:n.*2088C>A
ENST00000683587.1:n.2721C>A
ENST00000683735.1:c.*2588C>A	ENSP00000508336.1:n.*2588C>A
ENST00000683853.1:c.*2300C>A	ENSP00000506834.1:n.*2300C>A
ENST00000684125.1:c.*850C>A	ENSP00000507320.1:n.*850C>A
ENST00000684203.1:n.4639C>A
ENST00000684231.1:c.*1600C>A	ENSP00000507748.1:n.*1600C>A
ENST00000684263.1:c.*1814C>A	ENSP00000508369.1:n.*1814C>A
ENST00000684305.1:c.2638C>A	ENSP00000506819.1:n.2638C>A
ENST00000684602.1:c.*1856C>A	ENSP00000507996.1:n.*1856C>A
ENST00000684667.1:c.2521C>A	ENSP00000507003.1:n.2521C>A
ENST00000268097.10:c.*600C>A MANE Select	ENSP00000268097.6:n.*600C>A
ENST00000268097.9:c.*600C>A	ENSP00000268097.5:n.*600C>A
ENST00000379915.4:c.608+1969C>A	ENSP00000478716.1:n.608+1969C>A
NM_000520.4:c.*600C>A	NP_000511.2:n.*600C>A
NM_000520.5:c.*600C>A	NP_000511.2:n.*600C>A
NM_001318825.1:c.*600C>A	NP_001305754.1:n.*600C>A
NM_000520.6:c.*600C>A MANE Select	NP_000511.2:n.*600C>A
NM_001318825.2:c.*600C>A	NP_001305754.1:n.*600C>A