Canonical Allele Identifier: CA392971442

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500478T>G (hg19) ; chr15:g.68208140T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208140T>G , CM000677.2:g.68208140T>G	GRCh38
NC_000015.9:g.68500478T>G , CM000677.1:g.68500478T>G	GRCh37
NC_000015.8:g.66287532T>G	NCBI36
NG_008764.2:g.54072A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.936A>C MANE Select	ENSP00000249806.5:p.Ter312Cys
ENST00000562767.2:c.84-10512A>C	ENSP00000456336.1:n.84-10512A>C
ENST00000565471.6:c.477A>C	ENSP00000457384.1:p.Ter159Cys
ENST00000635747.1:c.*839A>C	ENSP00000490627.1:n.*839A>C
ENST00000636964.1:n.2464A>C
ENST00000637054.1:c.198+10396A>C	ENSP00000490807.1:n.198+10396A>C
ENST00000637329.1:c.905A>C
ENST00000637494.1:c.648A>C	ENSP00000490057.1:p.Ter216Cys
ENST00000637888.1:c.198+10396A>C	ENSP00000490546.1:n.198+10396A>C
ENST00000638076.1:c.*539A>C	ENSP00000490373.1:n.*539A>C
ENST00000646164.1:c.39-8459A>C
ENST00000249806.9:c.936A>C	ENSP00000249806.5:p.Ter312Cys
ENST00000538696.5:c.1032A>C	ENSP00000445770.1:p.Ter344Cys
ENST00000562767.1:c.84-10512A>C	ENSP00000456336.1:n.84-10512A>C
ENST00000565471.5:c.477A>C	ENSP00000457384.1:p.Ter159Cys
ENST00000566347.5:c.747A>C	ENSP00000457783.1:p.Ter249Cys
ENST00000567060.5:c.*334A>C	ENSP00000454818.1:n.*334A>C
NM_017882.2:c.936A>C	NP_060352.1:p.Ter312Cys
NM_017882.3:c.936A>C MANE Select	NP_060352.1:p.Ter312Cys