Canonical Allele Identifier: CA2215673660
Gene: CLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28484013C= , CM000678.2:g.28484013C= GRCh38
NC_000016.9:g.28495334C= , CM000678.1:g.28495334C= GRCh37
NC_000016.8:g.28402835C= NCBI36
NG_008654.2:g.13290G= , LRG_689:g.13290G=

Transcript Alleles

HGVS Amino-acid change
ENST00000333496.14:c.711G= ENSP00000329171.9:p.Ser237=
ENST00000355477.10:c.639G= ENSP00000347660.7:p.Ser213=
ENST00000357857.14:c.621G= ENSP00000350523.9:p.Ser207=
ENST00000359984.12:c.783G= ENSP00000353073.9:p.Ser261=
ENST00000360019.8:c.711G= ENSP00000353116.3:p.Ser237=
ENST00000395653.9:c.324G= ENSP00000379014.5:p.Ser108=
ENST00000561689.6:n.1068G=
ENST00000564091.6:c.123G= ENSP00000454466.2:p.Ser41=
ENST00000565316.6:c.783G= ENSP00000456117.1:p.Ser261=
ENST00000565778.6:c.414G= ENSP00000458015.1:p.Ser138=
ENST00000566083.6:n.1241G=
ENST00000566824.6:n.763G=
ENST00000567963.6:c.621G= ENSP00000455387.2:p.Ser207=
ENST00000568076.6:n.910G=
ENST00000568422.6:c.*20G= ENSP00000455549.2:n.*20G=
ENST00000568452.6:n.886G=
ENST00000568472.6:n.659G=
ENST00000568497.6:c.-187G= ENSP00000456414.2:n.-187G=
ENST00000568558.6:c.486G= ENSP00000455603.2:p.Ser162=
ENST00000569430.7:c.783G= ENSP00000454229.1:p.Ser261=
ENST00000628023.3:c.*79G= ENSP00000486178.1:n.*79G=
ENST00000635861.1:c.*307G= ENSP00000490034.1:n.*307G=
ENST00000635887.1:c.783G= ENSP00000490709.1:p.Ser261=
ENST00000635958.1:n.894G=
ENST00000635973.1:c.534G= ENSP00000490363.1:p.Ser178=
ENST00000636017.1:c.*307G= ENSP00000490538.1:n.*307G=
ENST00000636078.1:n.825G=
ENST00000636147.2:c.783G= MANE Select ENSP00000490105.1:p.Ser261=
ENST00000636172.1:c.*307G= ENSP00000490505.1:n.*307G=
ENST00000636228.1:c.477G= ENSP00000489627.1:p.Ser159=
ENST00000636351.1:n.503G=
ENST00000636503.1:c.783G= ENSP00000489824.1:p.Ser261=
ENST00000636685.1:n.290G=
ENST00000636766.1:c.783G= ENSP00000489841.1:p.Ser261=
ENST00000636839.1:n.935G=
ENST00000636853.1:n.1698G=
ENST00000636866.1:c.783G= ENSP00000490880.1:p.Ser261=
ENST00000636907.1:n.934G=
ENST00000636977.1:n.1851G=
ENST00000637050.1:n.870G=
ENST00000637100.1:c.783G= ENSP00000490394.1:p.Ser261=
ENST00000637107.1:c.*307G= ENSP00000490248.1:n.*307G=
ENST00000637184.1:c.783G= ENSP00000489952.1:p.Ser261=
ENST00000637299.1:c.*592G= ENSP00000489823.1:n.*592G=
ENST00000637376.1:c.783G= ENSP00000490758.1:p.Ser261=
ENST00000637578.1:c.*307G= ENSP00000490206.1:n.*307G=
ENST00000637699.1:c.566G= ENSP00000490049.1:n.566G=
ENST00000637745.1:c.122G=
ENST00000637871.1:c.*307G= ENSP00000490670.1:n.*307G=
ENST00000333496.13:c.711G= ENSP00000329171.9:p.Ser237=
ENST00000355477.9:c.*20G= ENSP00000347660.6:n.*20G=
ENST00000357806.11:c.486G= ENSP00000350457.7:p.Ser162=
ENST00000357857.13:c.621G= ENSP00000350523.9:p.Ser207=
ENST00000359984.11:c.477G= ENSP00000353073.8:p.Ser159=
ENST00000360019.6:c.783G= ENSP00000353116.2:p.Ser261=
ENST00000395653.8:c.483G= ENSP00000379014.4:p.Ser161=
ENST00000561689.5:n.624G=
ENST00000563874.5:n.2137G=
ENST00000564574.5:n.831G=
ENST00000565047.1:n.377G=
ENST00000565140.5:c.566G= ENSP00000455342.1:n.566G=
ENST00000565316.5:c.783G= ENSP00000456117.1:p.Ser261=
ENST00000565354.5:n.2G=
ENST00000565778.5:c.414G= ENSP00000458015.1:p.Ser138=
ENST00000566057.5:c.397G= ENSP00000456693.1:n.397G=
ENST00000566083.5:n.1014G=
ENST00000566824.5:n.832G=
ENST00000567495.5:c.*20G= ENSP00000456013.1:n.*20G=
ENST00000567963.5:c.783G= ENSP00000455387.1:p.Ser261=
ENST00000568076.5:n.566G=
ENST00000568224.4:c.549G= ENSP00000454253.1:p.Ser183=
ENST00000568422.5:c.*20G= ENSP00000455549.1:n.*20G=
ENST00000568452.5:n.783G=
ENST00000568472.5:n.263G=
ENST00000568497.5:c.*79G= ENSP00000456414.1:n.*79G=
ENST00000568558.5:c.324G= ENSP00000455603.1:p.Ser108=
ENST00000569030.5:c.461-1341G= ENSP00000454680.1:n.461-1341G=
ENST00000569430.5:c.783G= ENSP00000454229.1:p.Ser261=
ENST00000628023.2:c.*79G= ENSP00000486178.1:n.*79G=
ENST00000631023.2:c.783G= ENSP00000486616.1:p.Ser261=
NM_000086.2:c.783G= , LRG_689t1:c.783G= NP_000077.1:p.Ser261=
NM_001042432.1:c.783G= , LRG_689t2:c.783G= NP_001035897.1:p.Ser261=
NM_001286104.1:c.711G= NP_001273033.1:p.Ser237=
NM_001286105.1:c.483G= NP_001273034.1:p.Ser161=
NM_001286109.1:c.549G= NP_001273038.1:p.Ser183=
NM_001286110.1:c.621G= NP_001273039.1:p.Ser207=
NM_001042432.2:c.783G= MANE Select NP_001035897.1:p.Ser261=
NM_001286104.2:c.711G= NP_001273033.1:p.Ser237=
NM_001286105.2:c.483G= NP_001273034.1:p.Ser161=
NM_001286109.2:c.549G= NP_001273038.1:p.Ser183=
NM_001286110.2:c.621G= NP_001273039.1:p.Ser207=