Canonical Allele Identifier: CA392972382

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1450044
• ClinVar RCV Id: RCV001989946
• dbSNP Id: rs2093194324
• MyVariant Identifiers: chr15:g.68500747A>G (hg19) ; chr15:g.68208409A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208409A>G , CM000677.2:g.68208409A>G	GRCh38
NC_000015.9:g.68500747A>G , CM000677.1:g.68500747A>G	GRCh37
NC_000015.8:g.66287801A>G	NCBI36
NG_008764.2:g.53803T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.667T>C MANE Select	ENSP00000249806.5:p.Tyr223His
ENST00000562767.2:c.84-10781T>C	ENSP00000456336.1:n.84-10781T>C
ENST00000563917.2:n.509T>C
ENST00000565471.6:c.208T>C	ENSP00000457384.1:p.Tyr70His
ENST00000635747.1:c.*570T>C	ENSP00000490627.1:n.*570T>C
ENST00000636212.1:c.*337T>C	ENSP00000489851.1:n.*337T>C
ENST00000636674.1:n.1769T>C
ENST00000636964.1:n.2195T>C
ENST00000637054.1:c.198+10127T>C	ENSP00000490807.1:n.198+10127T>C
ENST00000637329.1:c.636T>C
ENST00000637450.1:c.*321T>C	ENSP00000490204.1:n.*321T>C
ENST00000637494.1:c.379T>C	ENSP00000490057.1:p.Tyr127His
ENST00000637667.1:c.568T>C	ENSP00000489843.1:p.Tyr190His
ENST00000637823.1:c.492T>C
ENST00000637888.1:c.198+10127T>C	ENSP00000490546.1:n.198+10127T>C
ENST00000638076.1:c.*270T>C	ENSP00000490373.1:n.*270T>C
ENST00000638144.1:n.310T>C
ENST00000646164.1:c.39-8728T>C
ENST00000249806.9:c.667T>C	ENSP00000249806.5:p.Tyr223His
ENST00000538696.5:c.763T>C	ENSP00000445770.1:p.Tyr255His
ENST00000562767.1:c.84-10781T>C	ENSP00000456336.1:n.84-10781T>C
ENST00000564752.1:c.*51T>C	ENSP00000457822.1:n.*51T>C
ENST00000565471.5:c.208T>C	ENSP00000457384.1:p.Tyr70His
ENST00000566347.5:c.478T>C	ENSP00000457783.1:p.Tyr160His
ENST00000567060.5:c.*65T>C	ENSP00000454818.1:n.*65T>C
NM_017882.2:c.667T>C	NP_060352.1:p.Tyr223His
XR_931861.1:n.889T>C
NM_017882.3:c.667T>C MANE Select	NP_060352.1:p.Tyr223His