Canonical Allele Identifier: CA272607589

Gene: HEXA

Linked Data

• dbSNP Id: rs550241078
• gnomAD v2: 15-72635808-A-T
• gnomAD v3: 15-72343467-A-T
• gnomAD v4: 15-72343467-A-T
• MyVariant Identifiers: chr15:g.72635808A>T (hg19) ; chr15:g.72343467A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343467A>T , CM000677.2:g.72343467A>T	GRCh38
NC_000015.9:g.72635808A>T , CM000677.1:g.72635808A>T	GRCh37
NC_000015.8:g.70422862A>T	NCBI36
NG_009017.1:g.37713T>A
NG_009017.2:g.37713T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2427T>A
ENST00000682235.1:n.2223T>A
ENST00000682461.1:c.2306T>A	ENSP00000507308.1:n.2306T>A
ENST00000682653.1:n.4509T>A
ENST00000682721.1:c.*2003T>A	ENSP00000507535.1:n.*2003T>A
ENST00000682843.1:c.*1841T>A	ENSP00000508173.1:n.*1841T>A
ENST00000683133.1:c.2384T>A	ENSP00000508108.1:n.2384T>A
ENST00000683243.1:c.*1353T>A	ENSP00000507042.1:n.*1353T>A
ENST00000683463.1:c.*1689T>A	ENSP00000507986.1:n.*1689T>A
ENST00000683548.1:n.2658T>A
ENST00000683579.1:c.*2098T>A	ENSP00000506867.1:n.*2098T>A
ENST00000683587.1:n.2731T>A
ENST00000683735.1:c.*2598T>A	ENSP00000508336.1:n.*2598T>A
ENST00000683853.1:c.*2310T>A	ENSP00000506834.1:n.*2310T>A
ENST00000684125.1:c.*860T>A	ENSP00000507320.1:n.*860T>A
ENST00000684203.1:n.4649T>A
ENST00000684231.1:c.*1610T>A	ENSP00000507748.1:n.*1610T>A
ENST00000684263.1:c.*1824T>A	ENSP00000508369.1:n.*1824T>A
ENST00000684305.1:c.2648T>A	ENSP00000506819.1:n.2648T>A
ENST00000684602.1:c.*1866T>A	ENSP00000507996.1:n.*1866T>A
ENST00000684667.1:c.2531T>A	ENSP00000507003.1:n.2531T>A
ENST00000268097.10:c.*610T>A MANE Select	ENSP00000268097.6:n.*610T>A
ENST00000268097.9:c.*610T>A	ENSP00000268097.5:n.*610T>A
ENST00000379915.4:c.608+1979T>A	ENSP00000478716.1:n.608+1979T>A
NM_000520.4:c.*610T>A	NP_000511.2:n.*610T>A
NM_000520.5:c.*610T>A	NP_000511.2:n.*610T>A
NM_001318825.1:c.*610T>A	NP_001305754.1:n.*610T>A
NM_000520.6:c.*610T>A MANE Select	NP_000511.2:n.*610T>A
NM_001318825.2:c.*610T>A	NP_001305754.1:n.*610T>A