Canonical Allele Identifier: CA2215673926
Gene: CLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28484086T= , CM000678.2:g.28484086T= GRCh38
NC_000016.9:g.28495407T= , CM000678.1:g.28495407T= GRCh37
NC_000016.8:g.28402908T= NCBI36
NG_008654.2:g.13217A= , LRG_689:g.13217A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000333496.14:c.638A= ENSP00000329171.9:p.Gln213=
ENST00000355477.10:c.566A= ENSP00000347660.7:p.Gln189=
ENST00000357857.14:c.548A= ENSP00000350523.9:p.Gln183=
ENST00000359984.12:c.710A= ENSP00000353073.9:p.Gln237=
ENST00000360019.8:c.638A= ENSP00000353116.3:p.Gln213=
ENST00000395653.9:c.251A= ENSP00000379014.5:p.Gln84=
ENST00000561689.6:n.995A=
ENST00000564091.6:c.50A= ENSP00000454466.2:p.Gln17=
ENST00000565316.6:c.710A= ENSP00000456117.1:p.Gln237=
ENST00000565778.6:c.341A= ENSP00000458015.1:p.Gln114=
ENST00000566083.6:n.1168A=
ENST00000566824.6:n.690A=
ENST00000567495.6:c.*169A= ENSP00000456013.2:n.*169A=
ENST00000567963.6:c.548A= ENSP00000455387.2:p.Gln183=
ENST00000568076.6:n.837A=
ENST00000568422.6:c.493A= ENSP00000455549.2:p.Arg165=
ENST00000568452.6:n.813A=
ENST00000568472.6:n.586A=
ENST00000568497.6:c.-260A= ENSP00000456414.2:n.-260A=
ENST00000568558.6:c.413A= ENSP00000455603.2:p.Gln138=
ENST00000569430.7:c.710A= ENSP00000454229.1:p.Gln237=
ENST00000628023.3:c.*6A= ENSP00000486178.1:n.*6A=
ENST00000635861.1:c.*234A= ENSP00000490034.1:n.*234A=
ENST00000635887.1:c.710A= ENSP00000490709.1:p.Gln237=
ENST00000635958.1:n.821A=
ENST00000635973.1:c.461A= ENSP00000490363.1:p.Gln154=
ENST00000636017.1:c.*234A= ENSP00000490538.1:n.*234A=
ENST00000636078.1:n.752A=
ENST00000636147.2:c.710A= MANE Select ENSP00000490105.1:p.Gln237=
ENST00000636172.1:c.*234A= ENSP00000490505.1:n.*234A=
ENST00000636228.1:c.404A= ENSP00000489627.1:p.Gln135=
ENST00000636351.1:n.430A=
ENST00000636503.1:c.710A= ENSP00000489824.1:p.Gln237=
ENST00000636685.1:n.217A=
ENST00000636766.1:c.710A= ENSP00000489841.1:p.Gln237=
ENST00000636839.1:n.862A=
ENST00000636853.1:n.1625A=
ENST00000636866.1:c.710A= ENSP00000490880.1:p.Gln237=
ENST00000636907.1:n.861A=
ENST00000636977.1:n.1778A=
ENST00000637050.1:n.797A=
ENST00000637100.1:c.710A= ENSP00000490394.1:p.Gln237=
ENST00000637107.1:c.*234A= ENSP00000490248.1:n.*234A=
ENST00000637184.1:c.710A= ENSP00000489952.1:p.Gln237=
ENST00000637299.1:c.*519A= ENSP00000489823.1:n.*519A=
ENST00000637376.1:c.710A= ENSP00000490758.1:p.Gln237=
ENST00000637578.1:c.*234A= ENSP00000490206.1:n.*234A=
ENST00000637699.1:c.493A= ENSP00000490049.1:p.Arg165=
ENST00000637745.1:c.49A=
ENST00000637871.1:c.*234A= ENSP00000490670.1:n.*234A=
ENST00000333496.13:c.638A= ENSP00000329171.9:p.Gln213=
ENST00000355477.9:c.493A= ENSP00000347660.6:p.Arg165=
ENST00000357806.11:c.413A= ENSP00000350457.7:p.Gln138=
ENST00000357857.13:c.548A= ENSP00000350523.9:p.Gln183=
ENST00000359984.11:c.404A= ENSP00000353073.8:p.Gln135=
ENST00000360019.6:c.710A= ENSP00000353116.2:p.Gln237=
ENST00000395653.8:c.410A= ENSP00000379014.4:p.Gln137=
ENST00000561689.5:n.551A=
ENST00000563874.5:n.2064A=
ENST00000564574.5:n.758A=
ENST00000565047.1:n.304A=
ENST00000565140.5:c.493A= ENSP00000455342.1:p.Arg165=
ENST00000565316.5:c.710A= ENSP00000456117.1:p.Gln237=
ENST00000565688.5:c.461A= ENSP00000456122.1:p.Gln154=
ENST00000565778.5:c.341A= ENSP00000458015.1:p.Gln114=
ENST00000566057.5:c.324A= ENSP00000456693.1:n.324A=
ENST00000566083.5:n.941A=
ENST00000566824.5:n.759A=
ENST00000567495.5:c.493A= ENSP00000456013.1:p.Arg165=
ENST00000567963.5:c.710A= ENSP00000455387.1:p.Gln237=
ENST00000568076.5:n.493A=
ENST00000568224.4:c.476A= ENSP00000454253.1:p.Gln159=
ENST00000568422.5:c.346A= ENSP00000455549.1:p.Arg116=
ENST00000568452.5:n.710A=
ENST00000568472.5:n.190A=
ENST00000568497.5:c.*6A= ENSP00000456414.1:n.*6A=
ENST00000568558.5:c.251A= ENSP00000455603.1:p.Gln84=
ENST00000569030.5:c.461-1414A= ENSP00000454680.1:n.461-1414A=
ENST00000569430.5:c.710A= ENSP00000454229.1:p.Gln237=
ENST00000628023.2:c.*6A= ENSP00000486178.1:n.*6A=
ENST00000631023.2:c.710A= ENSP00000486616.1:p.Gln237=
NM_000086.2:c.710A= , LRG_689t1:c.710A= NP_000077.1:p.Gln237=
NM_001042432.1:c.710A= , LRG_689t2:c.710A= NP_001035897.1:p.Gln237=
NM_001286104.1:c.638A= NP_001273033.1:p.Gln213=
NM_001286105.1:c.410A= NP_001273034.1:p.Gln137=
NM_001286109.1:c.476A= NP_001273038.1:p.Gln159=
NM_001286110.1:c.548A= NP_001273039.1:p.Gln183=
NM_001042432.2:c.710A= MANE Select NP_001035897.1:p.Gln237=
NM_001286104.2:c.638A= NP_001273033.1:p.Gln213=
NM_001286105.2:c.410A= NP_001273034.1:p.Gln137=
NM_001286109.2:c.476A= NP_001273038.1:p.Gln159=
NM_001286110.2:c.548A= NP_001273039.1:p.Gln183=