Canonical Allele Identifier: CA2186742351

Gene: HEXA

Linked Data

• dbSNP Id: rs1223441758

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343456A>C , CM000677.2:g.72343456A>C	GRCh38
NC_000015.9:g.72635797A>C , CM000677.1:g.72635797A>C	GRCh37
NC_000015.8:g.70422851A>C	NCBI36
NG_009017.1:g.37724T>G
NG_009017.2:g.37724T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2438T>G
ENST00000682235.1:n.2234T>G
ENST00000682461.1:c.2317T>G	ENSP00000507308.1:n.2317T>G
ENST00000682653.1:n.4520T>G
ENST00000682721.1:c.*2014T>G	ENSP00000507535.1:n.*2014T>G
ENST00000682843.1:c.*1852T>G	ENSP00000508173.1:n.*1852T>G
ENST00000683133.1:c.2395T>G	ENSP00000508108.1:n.2395T>G
ENST00000683243.1:c.*1364T>G	ENSP00000507042.1:n.*1364T>G
ENST00000683463.1:c.*1700T>G	ENSP00000507986.1:n.*1700T>G
ENST00000683548.1:n.2669T>G
ENST00000683579.1:c.*2109T>G	ENSP00000506867.1:n.*2109T>G
ENST00000683587.1:n.2742T>G
ENST00000683735.1:c.*2609T>G	ENSP00000508336.1:n.*2609T>G
ENST00000683853.1:c.*2321T>G	ENSP00000506834.1:n.*2321T>G
ENST00000684125.1:c.*871T>G	ENSP00000507320.1:n.*871T>G
ENST00000684203.1:n.4660T>G
ENST00000684231.1:c.*1621T>G	ENSP00000507748.1:n.*1621T>G
ENST00000684263.1:c.*1835T>G	ENSP00000508369.1:n.*1835T>G
ENST00000684305.1:c.2659T>G	ENSP00000506819.1:n.2659T>G
ENST00000684602.1:c.*1877T>G	ENSP00000507996.1:n.*1877T>G
ENST00000684667.1:c.2542T>G	ENSP00000507003.1:n.2542T>G
ENST00000268097.10:c.*621T>G MANE Select	ENSP00000268097.6:n.*621T>G
ENST00000268097.9:c.*621T>G	ENSP00000268097.5:n.*621T>G
ENST00000379915.4:c.608+1990T>G	ENSP00000478716.1:n.608+1990T>G
NM_000520.4:c.*621T>G	NP_000511.2:n.*621T>G
NM_000520.5:c.*621T>G	NP_000511.2:n.*621T>G
NM_001318825.1:c.*621T>G	NP_001305754.1:n.*621T>G
NM_000520.6:c.*621T>G MANE Select	NP_000511.2:n.*621T>G
NM_001318825.2:c.*621T>G	NP_001305754.1:n.*621T>G