Canonical Allele Identifier: CA392972983

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502066A>G (hg19) ; chr15:g.68209728A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209728A>G , CM000677.2:g.68209728A>G	GRCh38
NC_000015.9:g.68502066A>G , CM000677.1:g.68502066A>G	GRCh37
NC_000015.8:g.66289120A>G	NCBI36
NG_008764.2:g.52484T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.574T>C MANE Select	ENSP00000249806.5:p.Tyr192His
ENST00000562767.2:c.84-12100T>C	ENSP00000456336.1:n.84-12100T>C
ENST00000563917.2:n.416T>C
ENST00000565471.6:c.115T>C	ENSP00000457384.1:p.Tyr39His
ENST00000635747.1:c.*477T>C	ENSP00000490627.1:n.*477T>C
ENST00000636212.1:c.*244T>C	ENSP00000489851.1:n.*244T>C
ENST00000636314.1:c.270T>C	ENSP00000490295.1:p.Cys90=
ENST00000636674.1:n.1676T>C
ENST00000636964.1:n.2102T>C
ENST00000637054.1:c.198+8808T>C	ENSP00000490807.1:n.198+8808T>C
ENST00000637223.1:c.*288T>C	ENSP00000490010.1:n.*288T>C
ENST00000637329.1:c.543T>C
ENST00000637450.1:c.*228T>C	ENSP00000490204.1:n.*228T>C
ENST00000637494.1:c.286T>C	ENSP00000490057.1:p.Tyr96His
ENST00000637667.1:c.475T>C	ENSP00000489843.1:p.Tyr159His
ENST00000637823.1:c.399T>C
ENST00000637888.1:c.198+8808T>C	ENSP00000490546.1:n.198+8808T>C
ENST00000638076.1:c.*177T>C	ENSP00000490373.1:n.*177T>C
ENST00000638144.1:n.217T>C
ENST00000646164.1:c.38+8808T>C
ENST00000249806.9:c.574T>C	ENSP00000249806.5:p.Tyr192His
ENST00000538696.5:c.670T>C	ENSP00000445770.1:p.Tyr224His
ENST00000562767.1:c.84-12100T>C	ENSP00000456336.1:n.84-12100T>C
ENST00000563917.1:n.474T>C
ENST00000564752.1:c.600T>C	ENSP00000457822.1:p.Cys200=
ENST00000565471.5:c.115T>C	ENSP00000457384.1:p.Tyr39His
ENST00000566347.5:c.385T>C	ENSP00000457783.1:p.Tyr129His
ENST00000567060.5:c.298-8T>C	ENSP00000454818.1:n.298-8T>C
NM_017882.2:c.574T>C	NP_060352.1:p.Tyr192His
XR_931861.1:n.796T>C
NM_017882.3:c.574T>C MANE Select	NP_060352.1:p.Tyr192His