Canonical Allele Identifier: CA7630560

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1142064
• ClinVar RCV Id: RCV001479730 ; RCV003930992
• dbSNP Id: rs763901402
• ExAC: 15:68503609 G / A
• gnomAD v2: 15-68503609-G-A
• gnomAD v4: 15-68211271-G-A
• MyVariant Identifiers: chr15:g.68503609G>A (hg19) ; chr15:g.68211271G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211271G>A , CM000677.2:g.68211271G>A	GRCh38
NC_000015.9:g.68503609G>A , CM000677.1:g.68503609G>A	GRCh37
NC_000015.8:g.66290663G>A	NCBI36
NG_008764.2:g.50941C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.534C>T MANE Select	ENSP00000249806.5:p.His178=
ENST00000562767.2:c.84-13643C>T	ENSP00000456336.1:n.84-13643C>T
ENST00000563917.2:n.376C>T
ENST00000565471.6:c.84-1512C>T	ENSP00000457384.1:n.84-1512C>T
ENST00000635747.1:c.*437C>T	ENSP00000490627.1:n.*437C>T
ENST00000636212.1:c.*204C>T	ENSP00000489851.1:n.*204C>T
ENST00000636314.1:c.230C>T	ENSP00000490295.1:p.Thr77Ile
ENST00000636674.1:n.1636C>T
ENST00000636964.1:n.2062C>T
ENST00000637054.1:c.198+7265C>T	ENSP00000490807.1:n.198+7265C>T
ENST00000637223.1:c.*248C>T	ENSP00000490010.1:n.*248C>T
ENST00000637329.1:c.503C>T
ENST00000637450.1:c.*188C>T	ENSP00000490204.1:n.*188C>T
ENST00000637494.1:c.246C>T	ENSP00000490057.1:p.His82=
ENST00000637667.1:c.435C>T	ENSP00000489843.1:p.His145=
ENST00000637823.1:c.359C>T
ENST00000637888.1:c.198+7265C>T	ENSP00000490546.1:n.198+7265C>T
ENST00000638076.1:c.*137C>T	ENSP00000490373.1:n.*137C>T
ENST00000638144.1:n.177C>T
ENST00000646164.1:c.38+7265C>T
ENST00000249806.9:c.534C>T	ENSP00000249806.5:p.His178=
ENST00000538696.5:c.630C>T	ENSP00000445770.1:p.His210=
ENST00000562767.1:c.84-13643C>T	ENSP00000456336.1:n.84-13643C>T
ENST00000563917.1:n.434C>T
ENST00000564752.1:c.560C>T	ENSP00000457822.1:p.Thr187Ile
ENST00000565471.5:c.84-1512C>T	ENSP00000457384.1:n.84-1512C>T
ENST00000566347.5:c.345C>T	ENSP00000457783.1:p.His115=
ENST00000567060.5:c.298-1551C>T	ENSP00000454818.1:n.298-1551C>T
NM_017882.2:c.534C>T	NP_060352.1:p.His178=
XR_931861.1:n.756C>T
NM_017882.3:c.534C>T MANE Select	NP_060352.1:p.His178=