Canonical Allele Identifier: CA2186742455

Gene: HEXA

Linked Data

• dbSNP Id: rs2088575181

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343690C>G , CM000677.2:g.72343690C>G	GRCh38
NC_000015.9:g.72636031C>G , CM000677.1:g.72636031C>G	GRCh37
NC_000015.8:g.70423085C>G	NCBI36
NG_009017.1:g.37490G>C
NG_009017.2:g.37490G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.2204G>C
ENST00000682235.1:n.2000G>C
ENST00000682461.1:c.2083G>C	ENSP00000507308.1:n.2083G>C
ENST00000682653.1:n.4286G>C
ENST00000682721.1:c.*1780G>C	ENSP00000507535.1:n.*1780G>C
ENST00000682843.1:c.*1618G>C	ENSP00000508173.1:n.*1618G>C
ENST00000683133.1:c.2161G>C	ENSP00000508108.1:n.2161G>C
ENST00000683243.1:c.*1130G>C	ENSP00000507042.1:n.*1130G>C
ENST00000683463.1:c.*1466G>C	ENSP00000507986.1:n.*1466G>C
ENST00000683548.1:n.2435G>C
ENST00000683579.1:c.*1875G>C	ENSP00000506867.1:n.*1875G>C
ENST00000683587.1:n.2508G>C
ENST00000683735.1:c.*2375G>C	ENSP00000508336.1:n.*2375G>C
ENST00000683853.1:c.*2087G>C	ENSP00000506834.1:n.*2087G>C
ENST00000684125.1:c.*637G>C	ENSP00000507320.1:n.*637G>C
ENST00000684203.1:n.4426G>C
ENST00000684231.1:c.*1387G>C	ENSP00000507748.1:n.*1387G>C
ENST00000684263.1:c.*1601G>C	ENSP00000508369.1:n.*1601G>C
ENST00000684305.1:c.2425G>C	ENSP00000506819.1:n.2425G>C
ENST00000684602.1:c.*1643G>C	ENSP00000507996.1:n.*1643G>C
ENST00000684667.1:c.2308G>C	ENSP00000507003.1:n.2308G>C
ENST00000268097.10:c.*387G>C MANE Select	ENSP00000268097.6:n.*387G>C
ENST00000268097.9:c.*387G>C	ENSP00000268097.5:n.*387G>C
ENST00000379915.4:c.608+1756G>C	ENSP00000478716.1:n.608+1756G>C
NM_000520.4:c.*387G>C	NP_000511.2:n.*387G>C
NM_000520.5:c.*387G>C	NP_000511.2:n.*387G>C
NM_001318825.1:c.*387G>C	NP_001305754.1:n.*387G>C
NM_000520.6:c.*387G>C MANE Select	NP_000511.2:n.*387G>C
NM_001318825.2:c.*387G>C	NP_001305754.1:n.*387G>C