Canonical Allele Identifier: CA2629339741

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343688-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343688G>T , CM000677.2:g.72343688G>T	GRCh38
NC_000015.9:g.72636029G>T , CM000677.1:g.72636029G>T	GRCh37
NC_000015.8:g.70423083G>T	NCBI36
NG_009017.1:g.37492C>A
NG_009017.2:g.37492C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.2206C>A
ENST00000682235.1:n.2002C>A
ENST00000682461.1:c.2085C>A	ENSP00000507308.1:n.2085C>A
ENST00000682653.1:n.4288C>A
ENST00000682721.1:c.*1782C>A	ENSP00000507535.1:n.*1782C>A
ENST00000682843.1:c.*1620C>A	ENSP00000508173.1:n.*1620C>A
ENST00000683133.1:c.2163C>A	ENSP00000508108.1:n.2163C>A
ENST00000683243.1:c.*1132C>A	ENSP00000507042.1:n.*1132C>A
ENST00000683463.1:c.*1468C>A	ENSP00000507986.1:n.*1468C>A
ENST00000683548.1:n.2437C>A
ENST00000683579.1:c.*1877C>A	ENSP00000506867.1:n.*1877C>A
ENST00000683587.1:n.2510C>A
ENST00000683735.1:c.*2377C>A	ENSP00000508336.1:n.*2377C>A
ENST00000683853.1:c.*2089C>A	ENSP00000506834.1:n.*2089C>A
ENST00000684125.1:c.*639C>A	ENSP00000507320.1:n.*639C>A
ENST00000684203.1:n.4428C>A
ENST00000684231.1:c.*1389C>A	ENSP00000507748.1:n.*1389C>A
ENST00000684263.1:c.*1603C>A	ENSP00000508369.1:n.*1603C>A
ENST00000684305.1:c.2427C>A	ENSP00000506819.1:n.2427C>A
ENST00000684602.1:c.*1645C>A	ENSP00000507996.1:n.*1645C>A
ENST00000684667.1:c.2310C>A	ENSP00000507003.1:n.2310C>A
ENST00000268097.10:c.*389C>A MANE Select	ENSP00000268097.6:n.*389C>A
ENST00000268097.9:c.*389C>A	ENSP00000268097.5:n.*389C>A
ENST00000379915.4:c.608+1758C>A	ENSP00000478716.1:n.608+1758C>A
NM_000520.4:c.*389C>A	NP_000511.2:n.*389C>A
NM_000520.5:c.*389C>A	NP_000511.2:n.*389C>A
NM_001318825.1:c.*389C>A	NP_001305754.1:n.*389C>A
NM_000520.6:c.*389C>A MANE Select	NP_000511.2:n.*389C>A
NM_001318825.2:c.*389C>A	NP_001305754.1:n.*389C>A