Canonical Allele Identifier: CA259853
Gene: CLN6 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.68229568C>G
GRCh37 chr15:g.68521906C>G
Revel Score:
ENST00000249806 (MANE Select) 0.627
gnomAD v2:
15:68521906 C / G
gnomAD v4:
chr15-68229568-C-G
Joint Max Group AF 7.2e-7 (NFE)
Exomes Max Group AF 7.6e-7 (NFE)
ClinVar RCV:
RCV000058915
RCV001787033
ClinVar Variation:
30602
dbSNP:
154774636
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68229568C>G , CM000677.2:g.68229568C>G GRCh38
NC_000015.9:g.68521906C>G , CM000677.1:g.68521906C>G GRCh37
NC_000015.8:g.66308960C>G NCBI36
NG_008764.2:g.32644G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.17G>C MANE Select ENSP00000249806.5:p.Arg6Thr
ENST00000562767.2:c.17G>C ENSP00000456336.1:p.Arg6Thr
ENST00000563917.2:n.41-15180G>C
ENST00000565471.6:c.17G>C ENSP00000457384.1:p.Arg6Thr
ENST00000635747.1:c.173-10918G>C ENSP00000490627.1:n.173-10918G>C
ENST00000636020.1:n.149G>C
ENST00000636212.1:c.17G>C ENSP00000489851.1:p.Arg6Thr
ENST00000636314.1:c.17G>C ENSP00000490295.1:p.Arg6Thr
ENST00000636876.1:c.*104-10918G>C ENSP00000489950.1:n.*104-10918G>C
ENST00000637054.1:c.17G>C ENSP00000490807.1:p.Arg6Thr
ENST00000637223.1:c.173-10918G>C ENSP00000490010.1:n.173-10918G>C
ENST00000637450.1:c.17G>C ENSP00000490204.1:p.Arg6Thr
ENST00000637494.1:c.17G>C ENSP00000490057.1:p.Arg6Thr
ENST00000637667.1:c.17G>C ENSP00000489843.1:p.Arg6Thr
ENST00000637888.1:c.17G>C ENSP00000490546.1:p.Arg6Thr
ENST00000638076.1:c.17G>C ENSP00000490373.1:p.Arg6Thr
ENST00000638144.1:n.31-15180G>C
ENST00000249806.9:c.17G>C ENSP00000249806.5:p.Arg6Thr
ENST00000538696.5:c.180-10918G>C ENSP00000445770.1:n.180-10918G>C
ENST00000562767.1:c.17G>C ENSP00000456336.1:p.Arg6Thr
ENST00000564752.1:c.17G>C ENSP00000457822.1:p.Arg6Thr
ENST00000564846.1:n.516-10918G>C
ENST00000565471.5:c.17G>C ENSP00000457384.1:p.Arg6Thr
ENST00000566347.5:c.17G>C ENSP00000457783.1:p.Arg6Thr
ENST00000567060.5:c.17G>C ENSP00000454818.1:p.Arg6Thr
ENST00000569336.1:n.103G>C
NM_017882.2:c.17G>C NP_060352.1:p.Arg6Thr
XR_931861.1:n.120G>C
NM_017882.3:c.17G>C MANE Select NP_060352.1:p.Arg6Thr
Search 100 bp 5'
Search 100 bp 3'