Canonical Allele Identifier: CA2629339596

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343557-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343557C>A , CM000677.2:g.72343557C>A	GRCh38
NC_000015.9:g.72635898C>A , CM000677.1:g.72635898C>A	GRCh37
NC_000015.8:g.70422952C>A	NCBI36
NG_009017.1:g.37623G>T
NG_009017.2:g.37623G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2337G>T
ENST00000682235.1:n.2133G>T
ENST00000682461.1:c.2216G>T	ENSP00000507308.1:n.2216G>T
ENST00000682653.1:n.4419G>T
ENST00000682721.1:c.*1913G>T	ENSP00000507535.1:n.*1913G>T
ENST00000682843.1:c.*1751G>T	ENSP00000508173.1:n.*1751G>T
ENST00000683133.1:c.2294G>T	ENSP00000508108.1:n.2294G>T
ENST00000683243.1:c.*1263G>T	ENSP00000507042.1:n.*1263G>T
ENST00000683463.1:c.*1599G>T	ENSP00000507986.1:n.*1599G>T
ENST00000683548.1:n.2568G>T
ENST00000683579.1:c.*2008G>T	ENSP00000506867.1:n.*2008G>T
ENST00000683587.1:n.2641G>T
ENST00000683735.1:c.*2508G>T	ENSP00000508336.1:n.*2508G>T
ENST00000683853.1:c.*2220G>T	ENSP00000506834.1:n.*2220G>T
ENST00000684125.1:c.*770G>T	ENSP00000507320.1:n.*770G>T
ENST00000684203.1:n.4559G>T
ENST00000684231.1:c.*1520G>T	ENSP00000507748.1:n.*1520G>T
ENST00000684263.1:c.*1734G>T	ENSP00000508369.1:n.*1734G>T
ENST00000684305.1:c.2558G>T	ENSP00000506819.1:n.2558G>T
ENST00000684602.1:c.*1776G>T	ENSP00000507996.1:n.*1776G>T
ENST00000684667.1:c.2441G>T	ENSP00000507003.1:n.2441G>T
ENST00000268097.10:c.*520G>T MANE Select	ENSP00000268097.6:n.*520G>T
ENST00000268097.9:c.*520G>T	ENSP00000268097.5:n.*520G>T
ENST00000379915.4:c.608+1889G>T	ENSP00000478716.1:n.608+1889G>T
NM_000520.4:c.*520G>T	NP_000511.2:n.*520G>T
NM_000520.5:c.*520G>T	NP_000511.2:n.*520G>T
NM_001318825.1:c.*520G>T	NP_001305754.1:n.*520G>T
NM_000520.6:c.*520G>T MANE Select	NP_000511.2:n.*520G>T
NM_001318825.2:c.*520G>T	NP_001305754.1:n.*520G>T