Canonical Allele Identifier: CA392973474

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504094G>C (hg19) ; chr15:g.68211756G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211756G>C , CM000677.2:g.68211756G>C	GRCh38
NC_000015.9:g.68504094G>C , CM000677.1:g.68504094G>C	GRCh37
NC_000015.8:g.66291148G>C	NCBI36
NG_008764.2:g.50456C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.405C>G MANE Select	ENSP00000249806.5:p.His135Gln
ENST00000562767.2:c.84-14128C>G	ENSP00000456336.1:n.84-14128C>G
ENST00000563917.2:n.247C>G
ENST00000565471.6:c.84-1997C>G	ENSP00000457384.1:n.84-1997C>G
ENST00000635747.1:c.*308C>G	ENSP00000490627.1:n.*308C>G
ENST00000636212.1:c.298-15C>G	ENSP00000489851.1:n.298-15C>G
ENST00000636314.1:c.183-438C>G	ENSP00000490295.1:n.183-438C>G
ENST00000636674.1:n.1388C>G
ENST00000636964.1:n.1577C>G
ENST00000637054.1:c.198+6780C>G	ENSP00000490807.1:n.198+6780C>G
ENST00000637223.1:c.*201-438C>G	ENSP00000490010.1:n.*201-438C>G
ENST00000637329.1:c.374C>G
ENST00000637450.1:c.*59C>G	ENSP00000490204.1:n.*59C>G
ENST00000637494.1:c.199-438C>G	ENSP00000490057.1:n.199-438C>G
ENST00000637667.1:c.306C>G	ENSP00000489843.1:p.His102Gln
ENST00000637823.1:c.224-113C>G
ENST00000637888.1:c.198+6780C>G	ENSP00000490546.1:n.198+6780C>G
ENST00000638076.1:c.405C>G	ENSP00000490373.1:p.His135Gln
ENST00000638144.1:n.130-438C>G
ENST00000646164.1:c.38+6780C>G
ENST00000249806.9:c.405C>G	ENSP00000249806.5:p.His135Gln
ENST00000538696.5:c.501C>G	ENSP00000445770.1:p.His167Gln
ENST00000562767.1:c.84-14128C>G	ENSP00000456336.1:n.84-14128C>G
ENST00000563917.1:n.186C>G
ENST00000564752.1:c.405C>G	ENSP00000457822.1:p.His135Gln
ENST00000565471.5:c.84-1997C>G	ENSP00000457384.1:n.84-1997C>G
ENST00000566347.5:c.298-438C>G	ENSP00000457783.1:n.298-438C>G
ENST00000567060.5:c.298-2036C>G	ENSP00000454818.1:n.298-2036C>G
NM_017882.2:c.405C>G	NP_060352.1:p.His135Gln
XR_931861.1:n.508C>G
NM_017882.3:c.405C>G MANE Select	NP_060352.1:p.His135Gln