Canonical Allele Identifier: CA392972813

Gene: CLN6

Linked Data

• dbSNP Id: rs1567095087
• gnomAD v3: 15-68209653-T-G
• gnomAD v4: 15-68209653-T-G
• MyVariant Identifiers: chr15:g.68501991T>G (hg19) ; chr15:g.68209653T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209653T>G , CM000677.2:g.68209653T>G	GRCh38
NC_000015.9:g.68501991T>G , CM000677.1:g.68501991T>G	GRCh37
NC_000015.8:g.66289045T>G	NCBI36
NG_008764.2:g.52559A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.649A>C MANE Select	ENSP00000249806.5:p.Ser217Arg
ENST00000562767.2:c.84-12025A>C	ENSP00000456336.1:n.84-12025A>C
ENST00000563917.2:n.491A>C
ENST00000565471.6:c.190A>C	ENSP00000457384.1:p.Ser64Arg
ENST00000635747.1:c.*552A>C	ENSP00000490627.1:n.*552A>C
ENST00000636212.1:c.*319A>C	ENSP00000489851.1:n.*319A>C
ENST00000636674.1:n.1751A>C
ENST00000636964.1:n.2177A>C
ENST00000637054.1:c.198+8883A>C	ENSP00000490807.1:n.198+8883A>C
ENST00000637329.1:c.618A>C
ENST00000637450.1:c.*303A>C	ENSP00000490204.1:n.*303A>C
ENST00000637494.1:c.361A>C	ENSP00000490057.1:p.Ser121Arg
ENST00000637667.1:c.550A>C	ENSP00000489843.1:p.Ser184Arg
ENST00000637823.1:c.474A>C
ENST00000637888.1:c.198+8883A>C	ENSP00000490546.1:n.198+8883A>C
ENST00000638076.1:c.*252A>C	ENSP00000490373.1:n.*252A>C
ENST00000638144.1:n.292A>C
ENST00000646164.1:c.38+8883A>C
ENST00000249806.9:c.649A>C	ENSP00000249806.5:p.Ser217Arg
ENST00000538696.5:c.745A>C	ENSP00000445770.1:p.Ser249Arg
ENST00000562767.1:c.84-12025A>C	ENSP00000456336.1:n.84-12025A>C
ENST00000563917.1:n.549A>C
ENST00000564752.1:c.*33A>C	ENSP00000457822.1:n.*33A>C
ENST00000565471.5:c.190A>C	ENSP00000457384.1:p.Ser64Arg
ENST00000566347.5:c.460A>C	ENSP00000457783.1:p.Ser154Arg
ENST00000567060.5:c.*47A>C	ENSP00000454818.1:n.*47A>C
NM_017882.2:c.649A>C	NP_060352.1:p.Ser217Arg
XR_931861.1:n.871A>C
NM_017882.3:c.649A>C MANE Select	NP_060352.1:p.Ser217Arg