Canonical Allele Identifier: CA618959484

Gene: CLN6

Linked Data

• dbSNP Id: rs1254350735
• gnomAD v2: 15-68503952-A-G
• gnomAD v3: 15-68211614-A-G
• gnomAD v4: 15-68211614-A-G
• MyVariant Identifiers: chr15:g.68503952A>G (hg19) ; chr15:g.68211614A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211614A>G , CM000677.2:g.68211614A>G	GRCh38
NC_000015.9:g.68503952A>G , CM000677.1:g.68503952A>G	GRCh37
NC_000015.8:g.66291006A>G	NCBI36
NG_008764.2:g.50598T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.486+61T>C MANE Select	ENSP00000249806.5:n.486+61T>C
ENST00000562767.2:c.84-13986T>C	ENSP00000456336.1:n.84-13986T>C
ENST00000563917.2:n.328+61T>C
ENST00000565471.6:c.84-1855T>C	ENSP00000457384.1:n.84-1855T>C
ENST00000635747.1:c.*389+61T>C	ENSP00000490627.1:n.*389+61T>C
ENST00000636212.1:c.*98T>C	ENSP00000489851.1:n.*98T>C
ENST00000636314.1:c.183-296T>C	ENSP00000490295.1:n.183-296T>C
ENST00000636674.1:n.1530T>C
ENST00000636964.1:n.1719T>C
ENST00000637054.1:c.198+6922T>C	ENSP00000490807.1:n.198+6922T>C
ENST00000637223.1:c.*201-296T>C	ENSP00000490010.1:n.*201-296T>C
ENST00000637329.1:c.455+61T>C
ENST00000637450.1:c.*140+61T>C	ENSP00000490204.1:n.*140+61T>C
ENST00000637494.1:c.199-296T>C	ENSP00000490057.1:n.199-296T>C
ENST00000637667.1:c.387+61T>C	ENSP00000489843.1:n.387+61T>C
ENST00000637823.1:c.253T>C
ENST00000637888.1:c.198+6922T>C	ENSP00000490546.1:n.198+6922T>C
ENST00000638076.1:c.*31T>C	ENSP00000490373.1:n.*31T>C
ENST00000638144.1:n.130-296T>C
ENST00000646164.1:c.38+6922T>C
ENST00000249806.9:c.486+61T>C	ENSP00000249806.5:n.486+61T>C
ENST00000538696.5:c.582+61T>C	ENSP00000445770.1:n.582+61T>C
ENST00000562767.1:c.84-13986T>C	ENSP00000456336.1:n.84-13986T>C
ENST00000563917.1:n.328T>C
ENST00000564752.1:c.512+35T>C	ENSP00000457822.1:n.512+35T>C
ENST00000565471.5:c.84-1855T>C	ENSP00000457384.1:n.84-1855T>C
ENST00000566347.5:c.298-296T>C	ENSP00000457783.1:n.298-296T>C
ENST00000567060.5:c.298-1894T>C	ENSP00000454818.1:n.298-1894T>C
NM_017882.2:c.486+61T>C	NP_060352.1:n.486+61T>C
XR_931861.1:n.650T>C
NM_017882.3:c.486+61T>C MANE Select	NP_060352.1:n.486+61T>C