Canonical Allele Identifier: CA16041791
Gene: CLN3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370243
ClinVar RCV Id: RCV000409491
dbSNP Id: rs1057516343

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28491713C>T , CM000678.2:g.28491713C>T GRCh38
NC_000016.9:g.28503034C>T , CM000678.1:g.28503034C>T GRCh37
NC_000016.8:g.28410535C>T NCBI36
NG_008654.2:g.5590G>A , LRG_689:g.5590G>A

Transcript Alleles

HGVS Amino-acid change
NM_000086.2:c.46+1G>A , LRG_689t1:c.46+1G>A NP_000077.1:p.=
NM_001042432.1:c.46+1G>A , LRG_689t2:c.46+1G>A NP_001035897.1:p.=
NM_001286104.1:c.46+1G>A VV NP_001273033.1:p.=
NM_001286105.1:c.-96+1G>A VV NP_001273034.1:p.=
NM_001286109.1:c.-38+1G>A VV NP_001273038.1:p.=
NM_001286110.1:c.-38+1G>A VV NP_001273039.1:p.=
ENST00000333496.13:c.46+1G>A ENSP00000329171.9:p.=
ENST00000355477.9:c.46+1G>A ENSP00000347660.6:p.=
ENST00000357806.11:c.46+1G>A ENSP00000350457.7:p.=
ENST00000357857.13:c.-38+1G>A ENSP00000350523.9:p.=
ENST00000359984.11:c.-117+1G>A ENSP00000353073.8:p.=
ENST00000360019.6:c.46+1G>A ENSP00000353116.2:p.=
ENST00000395653.8:c.-96+1G>A ENSP00000379014.4:p.=
ENST00000561505.1:c.-96+1G>A ENSP00000457615.1:p.=
ENST00000561689.5:n.46+1G>A
ENST00000563874.5:n.1400+1G>A
ENST00000564574.5:n.173+1G>A
ENST00000565047.1:n.113+1G>A
ENST00000565140.5:n.46+1G>A ENSP00000455342.1:p.=
ENST00000565236.1:n.329+1G>A
ENST00000565316.5:n.46+1G>A ENSP00000456117.1:p.=
ENST00000565688.5:c.46+1G>A ENSP00000456122.1:p.=
ENST00000565778.5:c.46+1G>A ENSP00000458015.1:p.=
ENST00000566057.5:n.46+1G>A ENSP00000456693.1:p.=
ENST00000566083.5:n.125G>A
ENST00000566824.5:n.175+1G>A
ENST00000567495.5:c.46+1G>A ENSP00000456013.1:p.=
ENST00000567804.1:c.46+1G>A ENSP00000455365.1:p.=
ENST00000567963.5:c.46+1G>A ENSP00000455387.1:p.=
ENST00000568076.5:n.46+1G>A
ENST00000568224.4:c.-38+1G>A ENSP00000454253.1:p.=
ENST00000568422.5:c.-96+1G>A ENSP00000455549.1:p.=
ENST00000568443.1:c.47G>A ENSP00000454899.1:p.Gly16Asp
ENST00000568452.5:n.46+1G>A
ENST00000568472.5:n.60+1G>A
ENST00000568497.5:c.46+1G>A ENSP00000456414.1:p.=
ENST00000568558.5:c.-38+1G>A ENSP00000455603.1:p.=
ENST00000569030.5:n.46+1G>A ENSP00000454680.1:p.=
ENST00000569430.5:c.46+1G>A ENSP00000454229.1:p.=
ENST00000628023.2:c.46+1G>A ENSP00000486178.1:p.=
ENST00000631023.2:c.46+1G>A ENSP00000486616.1:p.=