Canonical Allele Identifier: CA392973447

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504080C>G (hg19) ; chr15:g.68211742C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211742C>G , CM000677.2:g.68211742C>G	GRCh38
NC_000015.9:g.68504080C>G , CM000677.1:g.68504080C>G	GRCh37
NC_000015.8:g.66291134C>G	NCBI36
NG_008764.2:g.50470G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.419G>C MANE Select	ENSP00000249806.5:p.Ser140Thr
ENST00000562767.2:c.84-14114G>C	ENSP00000456336.1:n.84-14114G>C
ENST00000563917.2:n.261G>C
ENST00000565471.6:c.84-1983G>C	ENSP00000457384.1:n.84-1983G>C
ENST00000635747.1:c.*322G>C	ENSP00000490627.1:n.*322G>C
ENST00000636212.1:c.298-1G>C	ENSP00000489851.1:n.298-1G>C
ENST00000636314.1:c.183-424G>C	ENSP00000490295.1:n.183-424G>C
ENST00000636674.1:n.1402G>C
ENST00000636964.1:n.1591G>C
ENST00000637054.1:c.198+6794G>C	ENSP00000490807.1:n.198+6794G>C
ENST00000637223.1:c.*201-424G>C	ENSP00000490010.1:n.*201-424G>C
ENST00000637329.1:c.388G>C
ENST00000637450.1:c.*73G>C	ENSP00000490204.1:n.*73G>C
ENST00000637494.1:c.199-424G>C	ENSP00000490057.1:n.199-424G>C
ENST00000637667.1:c.320G>C	ENSP00000489843.1:p.Ser107Thr
ENST00000637823.1:c.224-99G>C
ENST00000637888.1:c.198+6794G>C	ENSP00000490546.1:n.198+6794G>C
ENST00000638076.1:c.419G>C	ENSP00000490373.1:p.Ser140Thr
ENST00000638144.1:n.130-424G>C
ENST00000646164.1:c.38+6794G>C
ENST00000249806.9:c.419G>C	ENSP00000249806.5:p.Ser140Thr
ENST00000538696.5:c.515G>C	ENSP00000445770.1:p.Ser172Thr
ENST00000562767.1:c.84-14114G>C	ENSP00000456336.1:n.84-14114G>C
ENST00000563917.1:n.200G>C
ENST00000564752.1:c.419G>C	ENSP00000457822.1:p.Ser140Thr
ENST00000565471.5:c.84-1983G>C	ENSP00000457384.1:n.84-1983G>C
ENST00000566347.5:c.298-424G>C	ENSP00000457783.1:n.298-424G>C
ENST00000567060.5:c.298-2022G>C	ENSP00000454818.1:n.298-2022G>C
NM_017882.2:c.419G>C	NP_060352.1:p.Ser140Thr
XR_931861.1:n.522G>C
NM_017882.3:c.419G>C MANE Select	NP_060352.1:p.Ser140Thr