Canonical Allele Identifier: CA392973426

Gene: CLN6

Linked Data

• dbSNP Id: rs1299236624
• gnomAD v2: 15-68504071-T-C
• gnomAD v4: 15-68211733-T-C
• MyVariant Identifiers: chr15:g.68504071T>C (hg19) ; chr15:g.68211733T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211733T>C , CM000677.2:g.68211733T>C	GRCh38
NC_000015.9:g.68504071T>C , CM000677.1:g.68504071T>C	GRCh37
NC_000015.8:g.66291125T>C	NCBI36
NG_008764.2:g.50479A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.428A>G MANE Select	ENSP00000249806.5:p.Gln143Arg
ENST00000562767.2:c.84-14105A>G	ENSP00000456336.1:n.84-14105A>G
ENST00000563917.2:n.270A>G
ENST00000565471.6:c.84-1974A>G	ENSP00000457384.1:n.84-1974A>G
ENST00000635747.1:c.*331A>G	ENSP00000490627.1:n.*331A>G
ENST00000636212.1:c.306A>G	ENSP00000489851.1:p.Pro102=
ENST00000636314.1:c.183-415A>G	ENSP00000490295.1:n.183-415A>G
ENST00000636674.1:n.1411A>G
ENST00000636964.1:n.1600A>G
ENST00000637054.1:c.198+6803A>G	ENSP00000490807.1:n.198+6803A>G
ENST00000637223.1:c.*201-415A>G	ENSP00000490010.1:n.*201-415A>G
ENST00000637329.1:c.397A>G
ENST00000637450.1:c.*82A>G	ENSP00000490204.1:n.*82A>G
ENST00000637494.1:c.199-415A>G	ENSP00000490057.1:n.199-415A>G
ENST00000637667.1:c.329A>G	ENSP00000489843.1:p.Gln110Arg
ENST00000637823.1:c.224-90A>G
ENST00000637888.1:c.198+6803A>G	ENSP00000490546.1:n.198+6803A>G
ENST00000638076.1:c.428A>G	ENSP00000490373.1:p.Gln143Arg
ENST00000638144.1:n.130-415A>G
ENST00000646164.1:c.38+6803A>G
ENST00000249806.9:c.428A>G	ENSP00000249806.5:p.Gln143Arg
ENST00000538696.5:c.524A>G	ENSP00000445770.1:p.Gln175Arg
ENST00000562767.1:c.84-14105A>G	ENSP00000456336.1:n.84-14105A>G
ENST00000563917.1:n.209A>G
ENST00000564752.1:c.428A>G	ENSP00000457822.1:p.Gln143Arg
ENST00000565471.5:c.84-1974A>G	ENSP00000457384.1:n.84-1974A>G
ENST00000566347.5:c.298-415A>G	ENSP00000457783.1:n.298-415A>G
ENST00000567060.5:c.298-2013A>G	ENSP00000454818.1:n.298-2013A>G
NM_017882.2:c.428A>G	NP_060352.1:p.Gln143Arg
XR_931861.1:n.531A>G
NM_017882.3:c.428A>G MANE Select	NP_060352.1:p.Gln143Arg