Canonical Allele Identifier: CA392973616

Gene: CLN6

Linked Data

• dbSNP Id: rs1211135399
• gnomAD v2: 15-68504159-A-C
• gnomAD v4: 15-68211821-A-C
• MyVariant Identifiers: chr15:g.68504159A>C (hg19) ; chr15:g.68211821A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211821A>C , CM000677.2:g.68211821A>C	GRCh38
NC_000015.9:g.68504159A>C , CM000677.1:g.68504159A>C	GRCh37
NC_000015.8:g.66291213A>C	NCBI36
NG_008764.2:g.50391T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.340T>G MANE Select	ENSP00000249806.5:p.Tyr114Asp
ENST00000562767.2:c.84-14193T>G	ENSP00000456336.1:n.84-14193T>G
ENST00000563917.2:n.182T>G
ENST00000565471.6:c.84-2062T>G	ENSP00000457384.1:n.84-2062T>G
ENST00000635747.1:c.*243T>G	ENSP00000490627.1:n.*243T>G
ENST00000636212.1:c.298-80T>G	ENSP00000489851.1:n.298-80T>G
ENST00000636314.1:c.183-503T>G	ENSP00000490295.1:n.183-503T>G
ENST00000636674.1:n.1323T>G
ENST00000636964.1:n.1512T>G
ENST00000637054.1:c.198+6715T>G	ENSP00000490807.1:n.198+6715T>G
ENST00000637223.1:c.*201-503T>G	ENSP00000490010.1:n.*201-503T>G
ENST00000637329.1:c.309T>G
ENST00000637450.1:c.225T>G	ENSP00000490204.1:p.Arg75=
ENST00000637494.1:c.199-503T>G	ENSP00000490057.1:n.199-503T>G
ENST00000637667.1:c.241T>G	ENSP00000489843.1:p.Tyr81Asp
ENST00000637823.1:c.224-178T>G
ENST00000637888.1:c.198+6715T>G	ENSP00000490546.1:n.198+6715T>G
ENST00000638076.1:c.340T>G	ENSP00000490373.1:p.Tyr114Asp
ENST00000638144.1:n.130-503T>G
ENST00000646164.1:c.38+6715T>G
ENST00000249806.9:c.340T>G	ENSP00000249806.5:p.Tyr114Asp
ENST00000538696.5:c.436T>G	ENSP00000445770.1:p.Tyr146Asp
ENST00000562767.1:c.84-14193T>G	ENSP00000456336.1:n.84-14193T>G
ENST00000563917.1:n.121T>G
ENST00000564752.1:c.340T>G	ENSP00000457822.1:p.Tyr114Asp
ENST00000565471.5:c.84-2062T>G	ENSP00000457384.1:n.84-2062T>G
ENST00000566347.5:c.298-503T>G	ENSP00000457783.1:n.298-503T>G
ENST00000567060.5:c.298-2101T>G	ENSP00000454818.1:n.298-2101T>G
NM_017882.2:c.340T>G	NP_060352.1:p.Tyr114Asp
XR_931861.1:n.443T>G
NM_017882.3:c.340T>G MANE Select	NP_060352.1:p.Tyr114Asp