Canonical Allele Identifier: CA490913980
Gene: CLN6 HGNC NCBI

Linked Data

ClinVar Variation Id: 508954

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68214347A>G , CM000677.2:g.68214347A>G GRCh38
NC_000015.9:g.68506685A>G , CM000677.1:g.68506685A>G GRCh37
NC_000015.8:g.66293739A>G NCBI36
NG_008764.2:g.47865T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000249806.11:c.240T>C MANE Select ENSP00000249806.5:p.Ser80=
ENST00000562767.2:c.83+15155T>C ENSP00000456336.1:p.=
ENST00000563917.2:n.82T>C
ENST00000565471.6:c.84-4588T>C ENSP00000457384.1:p.=
ENST00000635747.1:c.*143T>C ENSP00000490627.1:p.=
ENST00000635754.1:n.1262T>C
ENST00000636020.1:n.372T>C
ENST00000636212.1:c.240T>C ENSP00000489851.1:p.Ser80=
ENST00000636314.1:c.125T>C ENSP00000490295.1:p.Val42Ala
ENST00000637054.1:c.198+4189T>C ENSP00000490807.1:p.=
ENST00000637223.1:c.*143T>C ENSP00000490010.1:p.=
ENST00000637329.1:n.151T>C
ENST00000637450.1:c.125T>C ENSP00000490204.1:p.Val42Ala
ENST00000637494.1:c.199-3029T>C ENSP00000490057.1:p.=
ENST00000637667.1:c.199-2484T>C ENSP00000489843.1:p.=
ENST00000637823.1:n.166T>C
ENST00000637888.1:c.198+4189T>C ENSP00000490546.1:p.=
ENST00000638076.1:c.240T>C ENSP00000490373.1:p.Ser80=
ENST00000638144.1:n.72T>C
ENST00000646164.1:n.38+4189T>C
ENST00000249806.9:c.240T>C ENSP00000249806.5:p.Ser80=
ENST00000538696.5:c.336T>C ENSP00000445770.1:p.Ser112=
ENST00000562767.1:c.83+15155T>C ENSP00000456336.1:p.=
ENST00000563917.1:n.21T>C
ENST00000564752.1:c.240T>C ENSP00000457822.1:p.Ser80=
ENST00000564846.1:n.672T>C
ENST00000565471.5:c.84-4588T>C ENSP00000457384.1:p.=
ENST00000566347.5:c.240T>C ENSP00000457783.1:p.Ser80=
ENST00000567060.5:c.240T>C ENSP00000454818.1:p.Ser80=
NM_017882.2:c.240T>C NP_060352.1:p.Ser80=
XR_931861.1:n.343T>C
NM_017882.3:c.240T>C MANE Select NP_060352.1:p.Ser80=