Canonical Allele Identifier: CA2629339488

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343476-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343476T>C , CM000677.2:g.72343476T>C	GRCh38
NC_000015.9:g.72635817T>C , CM000677.1:g.72635817T>C	GRCh37
NC_000015.8:g.70422871T>C	NCBI36
NG_009017.1:g.37704A>G
NG_009017.2:g.37704A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.2418A>G
ENST00000682235.1:n.2214A>G
ENST00000682461.1:c.2297A>G	ENSP00000507308.1:n.2297A>G
ENST00000682653.1:n.4500A>G
ENST00000682721.1:c.*1994A>G	ENSP00000507535.1:n.*1994A>G
ENST00000682843.1:c.*1832A>G	ENSP00000508173.1:n.*1832A>G
ENST00000683133.1:c.2375A>G	ENSP00000508108.1:n.2375A>G
ENST00000683243.1:c.*1344A>G	ENSP00000507042.1:n.*1344A>G
ENST00000683463.1:c.*1680A>G	ENSP00000507986.1:n.*1680A>G
ENST00000683548.1:n.2649A>G
ENST00000683579.1:c.*2089A>G	ENSP00000506867.1:n.*2089A>G
ENST00000683587.1:n.2722A>G
ENST00000683735.1:c.*2589A>G	ENSP00000508336.1:n.*2589A>G
ENST00000683853.1:c.*2301A>G	ENSP00000506834.1:n.*2301A>G
ENST00000684125.1:c.*851A>G	ENSP00000507320.1:n.*851A>G
ENST00000684203.1:n.4640A>G
ENST00000684231.1:c.*1601A>G	ENSP00000507748.1:n.*1601A>G
ENST00000684263.1:c.*1815A>G	ENSP00000508369.1:n.*1815A>G
ENST00000684305.1:c.2639A>G	ENSP00000506819.1:n.2639A>G
ENST00000684602.1:c.*1857A>G	ENSP00000507996.1:n.*1857A>G
ENST00000684667.1:c.2522A>G	ENSP00000507003.1:n.2522A>G
ENST00000268097.10:c.*601A>G MANE Select	ENSP00000268097.6:n.*601A>G
ENST00000268097.9:c.*601A>G	ENSP00000268097.5:n.*601A>G
ENST00000379915.4:c.608+1970A>G	ENSP00000478716.1:n.608+1970A>G
NM_000520.4:c.*601A>G	NP_000511.2:n.*601A>G
NM_000520.5:c.*601A>G	NP_000511.2:n.*601A>G
NM_001318825.1:c.*601A>G	NP_001305754.1:n.*601A>G
NM_000520.6:c.*601A>G MANE Select	NP_000511.2:n.*601A>G
NM_001318825.2:c.*601A>G	NP_001305754.1:n.*601A>G