Canonical Allele Identifier: CA392972218

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208370-A-G
• MyVariant Identifiers: chr15:g.68500708A>G (hg19) ; chr15:g.68208370A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208370A>G , CM000677.2:g.68208370A>G	GRCh38
NC_000015.9:g.68500708A>G , CM000677.1:g.68500708A>G	GRCh37
NC_000015.8:g.66287762A>G	NCBI36
NG_008764.2:g.53842T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.706T>C MANE Select	ENSP00000249806.5:p.Phe236Leu
ENST00000562767.2:c.84-10742T>C	ENSP00000456336.1:n.84-10742T>C
ENST00000563917.2:n.548T>C
ENST00000565471.6:c.247T>C	ENSP00000457384.1:p.Phe83Leu
ENST00000635747.1:c.*609T>C	ENSP00000490627.1:n.*609T>C
ENST00000636212.1:c.*376T>C	ENSP00000489851.1:n.*376T>C
ENST00000636674.1:n.1808T>C
ENST00000636964.1:n.2234T>C
ENST00000637054.1:c.198+10166T>C	ENSP00000490807.1:n.198+10166T>C
ENST00000637329.1:c.675T>C
ENST00000637450.1:c.*360T>C	ENSP00000490204.1:n.*360T>C
ENST00000637494.1:c.418T>C	ENSP00000490057.1:p.Phe140Leu
ENST00000637667.1:c.607T>C	ENSP00000489843.1:p.Phe203Leu
ENST00000637823.1:c.531T>C
ENST00000637888.1:c.198+10166T>C	ENSP00000490546.1:n.198+10166T>C
ENST00000638076.1:c.*309T>C	ENSP00000490373.1:n.*309T>C
ENST00000638144.1:n.349T>C
ENST00000646164.1:c.39-8689T>C
ENST00000249806.9:c.706T>C	ENSP00000249806.5:p.Phe236Leu
ENST00000538696.5:c.802T>C	ENSP00000445770.1:p.Phe268Leu
ENST00000562767.1:c.84-10742T>C	ENSP00000456336.1:n.84-10742T>C
ENST00000564752.1:c.*90T>C	ENSP00000457822.1:n.*90T>C
ENST00000565471.5:c.247T>C	ENSP00000457384.1:p.Phe83Leu
ENST00000566347.5:c.517T>C	ENSP00000457783.1:p.Phe173Leu
ENST00000567060.5:c.*104T>C	ENSP00000454818.1:n.*104T>C
NM_017882.2:c.706T>C	NP_060352.1:p.Phe236Leu
NM_017882.3:c.706T>C MANE Select	NP_060352.1:p.Phe236Leu