Canonical Allele Identifier: CA392972379

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500746T>C (hg19) ; chr15:g.68208408T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208408T>C , CM000677.2:g.68208408T>C	GRCh38
NC_000015.9:g.68500746T>C , CM000677.1:g.68500746T>C	GRCh37
NC_000015.8:g.66287800T>C	NCBI36
NG_008764.2:g.53804A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.668A>G MANE Select	ENSP00000249806.5:p.Tyr223Cys
ENST00000562767.2:c.84-10780A>G	ENSP00000456336.1:n.84-10780A>G
ENST00000563917.2:n.510A>G
ENST00000565471.6:c.209A>G	ENSP00000457384.1:p.Tyr70Cys
ENST00000635747.1:c.*571A>G	ENSP00000490627.1:n.*571A>G
ENST00000636212.1:c.*338A>G	ENSP00000489851.1:n.*338A>G
ENST00000636674.1:n.1770A>G
ENST00000636964.1:n.2196A>G
ENST00000637054.1:c.198+10128A>G	ENSP00000490807.1:n.198+10128A>G
ENST00000637329.1:c.637A>G
ENST00000637450.1:c.*322A>G	ENSP00000490204.1:n.*322A>G
ENST00000637494.1:c.380A>G	ENSP00000490057.1:p.Tyr127Cys
ENST00000637667.1:c.569A>G	ENSP00000489843.1:p.Tyr190Cys
ENST00000637823.1:c.493A>G
ENST00000637888.1:c.198+10128A>G	ENSP00000490546.1:n.198+10128A>G
ENST00000638076.1:c.*271A>G	ENSP00000490373.1:n.*271A>G
ENST00000638144.1:n.311A>G
ENST00000646164.1:c.39-8727A>G
ENST00000249806.9:c.668A>G	ENSP00000249806.5:p.Tyr223Cys
ENST00000538696.5:c.764A>G	ENSP00000445770.1:p.Tyr255Cys
ENST00000562767.1:c.84-10780A>G	ENSP00000456336.1:n.84-10780A>G
ENST00000564752.1:c.*52A>G	ENSP00000457822.1:n.*52A>G
ENST00000565471.5:c.209A>G	ENSP00000457384.1:p.Tyr70Cys
ENST00000566347.5:c.479A>G	ENSP00000457783.1:p.Tyr160Cys
ENST00000567060.5:c.*66A>G	ENSP00000454818.1:n.*66A>G
NM_017882.2:c.668A>G	NP_060352.1:p.Tyr223Cys
XR_931861.1:n.890A>G
NM_017882.3:c.668A>G MANE Select	NP_060352.1:p.Tyr223Cys