Canonical Allele Identifier: CA618694679

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2698229
• ClinVar RCV Id: RCV003533945
• dbSNP Id: rs1203183275
• gnomAD v2: 15-68502114-A-G
• gnomAD v4: 15-68209776-A-G
• MyVariant Identifiers: chr15:g.68502114A>G (hg19) ; chr15:g.68209776A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209776A>G , CM000677.2:g.68209776A>G	GRCh38
NC_000015.9:g.68502114A>G , CM000677.1:g.68502114A>G	GRCh37
NC_000015.8:g.66289168A>G	NCBI36
NG_008764.2:g.52436T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-17T>C MANE Select	ENSP00000249806.5:n.543-17T>C
ENST00000562767.2:c.84-12148T>C	ENSP00000456336.1:n.84-12148T>C
ENST00000563917.2:n.385-17T>C
ENST00000565471.6:c.84-17T>C	ENSP00000457384.1:n.84-17T>C
ENST00000635747.1:c.*446-17T>C	ENSP00000490627.1:n.*446-17T>C
ENST00000636212.1:c.*213-17T>C	ENSP00000489851.1:n.*213-17T>C
ENST00000636314.1:c.239-17T>C	ENSP00000490295.1:n.239-17T>C
ENST00000636674.1:n.1645-17T>C
ENST00000636964.1:n.2071-17T>C
ENST00000637054.1:c.198+8760T>C	ENSP00000490807.1:n.198+8760T>C
ENST00000637223.1:c.*257-17T>C	ENSP00000490010.1:n.*257-17T>C
ENST00000637329.1:c.512-17T>C
ENST00000637450.1:c.*197-17T>C	ENSP00000490204.1:n.*197-17T>C
ENST00000637494.1:c.255-17T>C	ENSP00000490057.1:n.255-17T>C
ENST00000637667.1:c.444-17T>C	ENSP00000489843.1:n.444-17T>C
ENST00000637823.1:c.368-17T>C
ENST00000637888.1:c.198+8760T>C	ENSP00000490546.1:n.198+8760T>C
ENST00000638076.1:c.*146-17T>C	ENSP00000490373.1:n.*146-17T>C
ENST00000638144.1:n.186-17T>C
ENST00000646164.1:c.38+8760T>C
ENST00000249806.9:c.543-17T>C	ENSP00000249806.5:n.543-17T>C
ENST00000538696.5:c.639-17T>C	ENSP00000445770.1:n.639-17T>C
ENST00000562767.1:c.84-12148T>C	ENSP00000456336.1:n.84-12148T>C
ENST00000563917.1:n.443-17T>C
ENST00000564752.1:c.569-17T>C	ENSP00000457822.1:n.569-17T>C
ENST00000565471.5:c.84-17T>C	ENSP00000457384.1:n.84-17T>C
ENST00000566347.5:c.354-17T>C	ENSP00000457783.1:n.354-17T>C
ENST00000567060.5:c.298-56T>C	ENSP00000454818.1:n.298-56T>C
NM_017882.2:c.543-17T>C	NP_060352.1:n.543-17T>C
XR_931861.1:n.765-17T>C
NM_017882.3:c.543-17T>C MANE Select	NP_060352.1:n.543-17T>C