Canonical Allele Identifier: CA392973568

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504137A>C (hg19) ; chr15:g.68211799A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211799A>C , CM000677.2:g.68211799A>C	GRCh38
NC_000015.9:g.68504137A>C , CM000677.1:g.68504137A>C	GRCh37
NC_000015.8:g.66291191A>C	NCBI36
NG_008764.2:g.50413T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.362T>G MANE Select	ENSP00000249806.5:p.Ile121Ser
ENST00000562767.2:c.84-14171T>G	ENSP00000456336.1:n.84-14171T>G
ENST00000563917.2:n.204T>G
ENST00000565471.6:c.84-2040T>G	ENSP00000457384.1:n.84-2040T>G
ENST00000635747.1:c.*265T>G	ENSP00000490627.1:n.*265T>G
ENST00000636212.1:c.298-58T>G	ENSP00000489851.1:n.298-58T>G
ENST00000636314.1:c.183-481T>G	ENSP00000490295.1:n.183-481T>G
ENST00000636674.1:n.1345T>G
ENST00000636964.1:n.1534T>G
ENST00000637054.1:c.198+6737T>G	ENSP00000490807.1:n.198+6737T>G
ENST00000637223.1:c.*201-481T>G	ENSP00000490010.1:n.*201-481T>G
ENST00000637329.1:c.331T>G
ENST00000637450.1:c.*16T>G	ENSP00000490204.1:n.*16T>G
ENST00000637494.1:c.199-481T>G	ENSP00000490057.1:n.199-481T>G
ENST00000637667.1:c.263T>G	ENSP00000489843.1:p.Ile88Ser
ENST00000637823.1:c.224-156T>G
ENST00000637888.1:c.198+6737T>G	ENSP00000490546.1:n.198+6737T>G
ENST00000638076.1:c.362T>G	ENSP00000490373.1:p.Ile121Ser
ENST00000638144.1:n.130-481T>G
ENST00000646164.1:c.38+6737T>G
ENST00000249806.9:c.362T>G	ENSP00000249806.5:p.Ile121Ser
ENST00000538696.5:c.458T>G	ENSP00000445770.1:p.Ile153Ser
ENST00000562767.1:c.84-14171T>G	ENSP00000456336.1:n.84-14171T>G
ENST00000563917.1:n.143T>G
ENST00000564752.1:c.362T>G	ENSP00000457822.1:p.Ile121Ser
ENST00000565471.5:c.84-2040T>G	ENSP00000457384.1:n.84-2040T>G
ENST00000566347.5:c.298-481T>G	ENSP00000457783.1:n.298-481T>G
ENST00000567060.5:c.298-2079T>G	ENSP00000454818.1:n.298-2079T>G
NM_017882.2:c.362T>G	NP_060352.1:p.Ile121Ser
XR_931861.1:n.465T>G
NM_017882.3:c.362T>G MANE Select	NP_060352.1:p.Ile121Ser