Canonical Allele Identifier: CA395344704
Gene: CLN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28484014G>C , CM000678.2:g.28484014G>C GRCh38
NC_000016.9:g.28495335G>C , CM000678.1:g.28495335G>C GRCh37
NC_000016.8:g.28402836G>C NCBI36
NG_008654.2:g.13289C>G , LRG_689:g.13289C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000333496.14:c.710C>G ENSP00000329171.9:p.Ser237Trp
ENST00000355477.10:c.638C>G ENSP00000347660.7:p.Ser213Trp
ENST00000357857.14:c.620C>G ENSP00000350523.9:p.Ser207Trp
ENST00000359984.12:c.782C>G ENSP00000353073.9:p.Ser261Trp
ENST00000360019.8:c.710C>G ENSP00000353116.3:p.Ser237Trp
ENST00000395653.9:c.323C>G ENSP00000379014.5:p.Ser108Trp
ENST00000561689.6:n.1067C>G
ENST00000564091.6:c.122C>G ENSP00000454466.2:p.Ser41Trp
ENST00000565316.6:c.782C>G ENSP00000456117.1:p.Ser261Trp
ENST00000565778.6:c.413C>G ENSP00000458015.1:p.Ser138Trp
ENST00000566083.6:n.1240C>G
ENST00000566824.6:n.762C>G
ENST00000567963.6:c.620C>G ENSP00000455387.2:p.Ser207Trp
ENST00000568076.6:n.909C>G
ENST00000568422.6:c.*19C>G ENSP00000455549.2:n.*19C>G
ENST00000568452.6:n.885C>G
ENST00000568472.6:n.658C>G
ENST00000568497.6:c.-188C>G ENSP00000456414.2:n.-188C>G
ENST00000568558.6:c.485C>G ENSP00000455603.2:p.Ser162Trp
ENST00000569430.7:c.782C>G ENSP00000454229.1:p.Ser261Trp
ENST00000628023.3:c.*78C>G ENSP00000486178.1:n.*78C>G
ENST00000635861.1:c.*306C>G ENSP00000490034.1:n.*306C>G
ENST00000635887.1:c.782C>G ENSP00000490709.1:p.Ser261Trp
ENST00000635958.1:n.893C>G
ENST00000635973.1:c.533C>G ENSP00000490363.1:p.Ser178Trp
ENST00000636017.1:c.*306C>G ENSP00000490538.1:n.*306C>G
ENST00000636078.1:n.824C>G
ENST00000636147.2:c.782C>G MANE Select ENSP00000490105.1:p.Ser261Trp
ENST00000636172.1:c.*306C>G ENSP00000490505.1:n.*306C>G
ENST00000636228.1:c.476C>G ENSP00000489627.1:p.Ser159Trp
ENST00000636351.1:n.502C>G
ENST00000636503.1:c.782C>G ENSP00000489824.1:p.Ser261Trp
ENST00000636685.1:n.289C>G
ENST00000636766.1:c.782C>G ENSP00000489841.1:p.Ser261Trp
ENST00000636839.1:n.934C>G
ENST00000636853.1:n.1697C>G
ENST00000636866.1:c.782C>G ENSP00000490880.1:p.Ser261Trp
ENST00000636907.1:n.933C>G
ENST00000636977.1:n.1850C>G
ENST00000637050.1:n.869C>G
ENST00000637100.1:c.782C>G ENSP00000490394.1:p.Ser261Trp
ENST00000637107.1:c.*306C>G ENSP00000490248.1:n.*306C>G
ENST00000637184.1:c.782C>G ENSP00000489952.1:p.Ser261Trp
ENST00000637299.1:c.*591C>G ENSP00000489823.1:n.*591C>G
ENST00000637376.1:c.782C>G ENSP00000490758.1:p.Ser261Trp
ENST00000637578.1:c.*306C>G ENSP00000490206.1:n.*306C>G
ENST00000637699.1:c.565C>G ENSP00000490049.1:n.565C>G
ENST00000637745.1:c.121C>G
ENST00000637871.1:c.*306C>G ENSP00000490670.1:n.*306C>G
ENST00000333496.13:c.710C>G ENSP00000329171.9:p.Ser237Trp
ENST00000355477.9:c.*19C>G ENSP00000347660.6:n.*19C>G
ENST00000357806.11:c.485C>G ENSP00000350457.7:p.Ser162Trp
ENST00000357857.13:c.620C>G ENSP00000350523.9:p.Ser207Trp
ENST00000359984.11:c.476C>G ENSP00000353073.8:p.Ser159Trp
ENST00000360019.6:c.782C>G ENSP00000353116.2:p.Ser261Trp
ENST00000395653.8:c.482C>G ENSP00000379014.4:p.Ser161Trp
ENST00000561689.5:n.623C>G
ENST00000563874.5:n.2136C>G
ENST00000564574.5:n.830C>G
ENST00000565047.1:n.376C>G
ENST00000565140.5:c.565C>G ENSP00000455342.1:n.565C>G
ENST00000565316.5:c.782C>G ENSP00000456117.1:p.Ser261Trp
ENST00000565354.5:n.1C>G
ENST00000565778.5:c.413C>G ENSP00000458015.1:p.Ser138Trp
ENST00000566057.5:c.396C>G ENSP00000456693.1:n.396C>G
ENST00000566083.5:n.1013C>G
ENST00000566824.5:n.831C>G
ENST00000567495.5:c.*19C>G ENSP00000456013.1:n.*19C>G
ENST00000567963.5:c.782C>G ENSP00000455387.1:p.Ser261Trp
ENST00000568076.5:n.565C>G
ENST00000568224.4:c.548C>G ENSP00000454253.1:p.Ser183Trp
ENST00000568422.5:c.*19C>G ENSP00000455549.1:n.*19C>G
ENST00000568452.5:n.782C>G
ENST00000568472.5:n.262C>G
ENST00000568497.5:c.*78C>G ENSP00000456414.1:n.*78C>G
ENST00000568558.5:c.323C>G ENSP00000455603.1:p.Ser108Trp
ENST00000569030.5:c.461-1342C>G ENSP00000454680.1:n.461-1342C>G
ENST00000569430.5:c.782C>G ENSP00000454229.1:p.Ser261Trp
ENST00000628023.2:c.*78C>G ENSP00000486178.1:n.*78C>G
ENST00000631023.2:c.782C>G ENSP00000486616.1:p.Ser261Trp
NM_000086.2:c.782C>G , LRG_689t1:c.782C>G NP_000077.1:p.Ser261Trp
NM_001042432.1:c.782C>G , LRG_689t2:c.782C>G NP_001035897.1:p.Ser261Trp
NM_001286104.1:c.710C>G NP_001273033.1:p.Ser237Trp
NM_001286105.1:c.482C>G NP_001273034.1:p.Ser161Trp
NM_001286109.1:c.548C>G NP_001273038.1:p.Ser183Trp
NM_001286110.1:c.620C>G NP_001273039.1:p.Ser207Trp
NM_001042432.2:c.782C>G MANE Select NP_001035897.1:p.Ser261Trp
NM_001286104.2:c.710C>G NP_001273033.1:p.Ser237Trp
NM_001286105.2:c.482C>G NP_001273034.1:p.Ser161Trp
NM_001286109.2:c.548C>G NP_001273038.1:p.Ser183Trp
NM_001286110.2:c.620C>G NP_001273039.1:p.Ser207Trp