Canonical Allele Identifier: CA392972981

Gene: CLN6

Linked Data

• dbSNP Id: rs1595817198
• MyVariant Identifiers: chr15:g.68502065T>G (hg19) ; chr15:g.68209727T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209727T>G , CM000677.2:g.68209727T>G	GRCh38
NC_000015.9:g.68502065T>G , CM000677.1:g.68502065T>G	GRCh37
NC_000015.8:g.66289119T>G	NCBI36
NG_008764.2:g.52485A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.575A>C MANE Select	ENSP00000249806.5:p.Tyr192Ser
ENST00000562767.2:c.84-12099A>C	ENSP00000456336.1:n.84-12099A>C
ENST00000563917.2:n.417A>C
ENST00000565471.6:c.116A>C	ENSP00000457384.1:p.Tyr39Ser
ENST00000635747.1:c.*478A>C	ENSP00000490627.1:n.*478A>C
ENST00000636212.1:c.*245A>C	ENSP00000489851.1:n.*245A>C
ENST00000636314.1:c.271A>C	ENSP00000490295.1:p.Thr91Pro
ENST00000636674.1:n.1677A>C
ENST00000636964.1:n.2103A>C
ENST00000637054.1:c.198+8809A>C	ENSP00000490807.1:n.198+8809A>C
ENST00000637223.1:c.*289A>C	ENSP00000490010.1:n.*289A>C
ENST00000637329.1:c.544A>C
ENST00000637450.1:c.*229A>C	ENSP00000490204.1:n.*229A>C
ENST00000637494.1:c.287A>C	ENSP00000490057.1:p.Tyr96Ser
ENST00000637667.1:c.476A>C	ENSP00000489843.1:p.Tyr159Ser
ENST00000637823.1:c.400A>C
ENST00000637888.1:c.198+8809A>C	ENSP00000490546.1:n.198+8809A>C
ENST00000638076.1:c.*178A>C	ENSP00000490373.1:n.*178A>C
ENST00000638144.1:n.218A>C
ENST00000646164.1:c.38+8809A>C
ENST00000249806.9:c.575A>C	ENSP00000249806.5:p.Tyr192Ser
ENST00000538696.5:c.671A>C	ENSP00000445770.1:p.Tyr224Ser
ENST00000562767.1:c.84-12099A>C	ENSP00000456336.1:n.84-12099A>C
ENST00000563917.1:n.475A>C
ENST00000564752.1:c.601A>C	ENSP00000457822.1:p.Thr201Pro
ENST00000565471.5:c.116A>C	ENSP00000457384.1:p.Tyr39Ser
ENST00000566347.5:c.386A>C	ENSP00000457783.1:p.Tyr129Ser
ENST00000567060.5:c.298-7A>C	ENSP00000454818.1:n.298-7A>C
NM_017882.2:c.575A>C	NP_060352.1:p.Tyr192Ser
XR_931861.1:n.797A>C
NM_017882.3:c.575A>C MANE Select	NP_060352.1:p.Tyr192Ser