Canonical Allele Identifier: CA252984
Gene: CLN6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4084
ClinVar RCV Id: RCV000004299
dbSNP Id: rs104894486

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68209639G>C , CM000677.2:g.68209639G>C GRCh38
NC_000015.9:g.68501977G>C , CM000677.1:g.68501977G>C GRCh37
NC_000015.8:g.66289031G>C NCBI36
NG_008764.2:g.52573C>G

Transcript Alleles

HGVS Amino-acid change
NM_017882.2:c.663C>G VV NP_060352.1:p.Tyr221Ter
XR_931861.1:n.885C>G
NM_017882.3:c.663C>G VV MANE Preferred NP_060352.1:p.Tyr221Ter
ENST00000249806.9:c.663C>G ENSP00000249806.5:p.Tyr221Ter
ENST00000538696.5:c.759C>G ENSP00000445770.1:p.Tyr253Ter
ENST00000562767.1:c.84-12011C>G ENSP00000456336.1:p.=
ENST00000563917.1:n.563C>G
ENST00000564752.1:c.*47C>G ENSP00000457822.1:p.=
ENST00000565471.5:c.204C>G ENSP00000457384.1:p.Tyr68Ter
ENST00000566347.5:c.474C>G ENSP00000457783.1:p.Tyr158Ter
ENST00000567060.5:c.*61C>G ENSP00000454818.1:p.=