Canonical Allele Identifier: CA7630542

Gene: CLN6

Linked Data

• dbSNP Id: rs755969686
• ExAC: 15:68502124 A / G
• gnomAD v2: 15-68502124-A-G
• gnomAD v3: 15-68209786-A-G
• gnomAD v4: 15-68209786-A-G
• MyVariant Identifiers: chr15:g.68502124A>G (hg19) ; chr15:g.68209786A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209786A>G , CM000677.2:g.68209786A>G	GRCh38
NC_000015.9:g.68502124A>G , CM000677.1:g.68502124A>G	GRCh37
NC_000015.8:g.66289178A>G	NCBI36
NG_008764.2:g.52426T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-27T>C MANE Select	ENSP00000249806.5:n.543-27T>C
ENST00000562767.2:c.84-12158T>C	ENSP00000456336.1:n.84-12158T>C
ENST00000563917.2:n.385-27T>C
ENST00000565471.6:c.84-27T>C	ENSP00000457384.1:n.84-27T>C
ENST00000635747.1:c.*446-27T>C	ENSP00000490627.1:n.*446-27T>C
ENST00000636212.1:c.*213-27T>C	ENSP00000489851.1:n.*213-27T>C
ENST00000636314.1:c.239-27T>C	ENSP00000490295.1:n.239-27T>C
ENST00000636674.1:n.1645-27T>C
ENST00000636964.1:n.2071-27T>C
ENST00000637054.1:c.198+8750T>C	ENSP00000490807.1:n.198+8750T>C
ENST00000637223.1:c.*257-27T>C	ENSP00000490010.1:n.*257-27T>C
ENST00000637329.1:c.512-27T>C
ENST00000637450.1:c.*197-27T>C	ENSP00000490204.1:n.*197-27T>C
ENST00000637494.1:c.255-27T>C	ENSP00000490057.1:n.255-27T>C
ENST00000637667.1:c.444-27T>C	ENSP00000489843.1:n.444-27T>C
ENST00000637823.1:c.368-27T>C
ENST00000637888.1:c.198+8750T>C	ENSP00000490546.1:n.198+8750T>C
ENST00000638076.1:c.*146-27T>C	ENSP00000490373.1:n.*146-27T>C
ENST00000638144.1:n.186-27T>C
ENST00000646164.1:c.38+8750T>C
ENST00000249806.9:c.543-27T>C	ENSP00000249806.5:n.543-27T>C
ENST00000538696.5:c.639-27T>C	ENSP00000445770.1:n.639-27T>C
ENST00000562767.1:c.84-12158T>C	ENSP00000456336.1:n.84-12158T>C
ENST00000563917.1:n.443-27T>C
ENST00000564752.1:c.569-27T>C	ENSP00000457822.1:n.569-27T>C
ENST00000565471.5:c.84-27T>C	ENSP00000457384.1:n.84-27T>C
ENST00000566347.5:c.354-27T>C	ENSP00000457783.1:n.354-27T>C
ENST00000567060.5:c.298-66T>C	ENSP00000454818.1:n.298-66T>C
NM_017882.2:c.543-27T>C	NP_060352.1:n.543-27T>C
XR_931861.1:n.765-27T>C
NM_017882.3:c.543-27T>C MANE Select	NP_060352.1:n.543-27T>C