Canonical Allele Identifier: CA392972845

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502011G>C (hg19) ; chr15:g.68209673G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209673G>C , CM000677.2:g.68209673G>C	GRCh38
NC_000015.9:g.68502011G>C , CM000677.1:g.68502011G>C	GRCh37
NC_000015.8:g.66289065G>C	NCBI36
NG_008764.2:g.52539C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.629C>G MANE Select	ENSP00000249806.5:p.Ala210Gly
ENST00000562767.2:c.84-12045C>G	ENSP00000456336.1:n.84-12045C>G
ENST00000563917.2:n.471C>G
ENST00000565471.6:c.170C>G	ENSP00000457384.1:p.Ala57Gly
ENST00000635747.1:c.*532C>G	ENSP00000490627.1:n.*532C>G
ENST00000636212.1:c.*299C>G	ENSP00000489851.1:n.*299C>G
ENST00000636314.1:c.*13C>G	ENSP00000490295.1:n.*13C>G
ENST00000636674.1:n.1731C>G
ENST00000636964.1:n.2157C>G
ENST00000637054.1:c.198+8863C>G	ENSP00000490807.1:n.198+8863C>G
ENST00000637329.1:c.598C>G
ENST00000637450.1:c.*283C>G	ENSP00000490204.1:n.*283C>G
ENST00000637494.1:c.341C>G	ENSP00000490057.1:p.Ala114Gly
ENST00000637667.1:c.530C>G	ENSP00000489843.1:p.Ala177Gly
ENST00000637823.1:c.454C>G
ENST00000637888.1:c.198+8863C>G	ENSP00000490546.1:n.198+8863C>G
ENST00000638076.1:c.*232C>G	ENSP00000490373.1:n.*232C>G
ENST00000638144.1:n.272C>G
ENST00000646164.1:c.38+8863C>G
ENST00000249806.9:c.629C>G	ENSP00000249806.5:p.Ala210Gly
ENST00000538696.5:c.725C>G	ENSP00000445770.1:p.Ala242Gly
ENST00000562767.1:c.84-12045C>G	ENSP00000456336.1:n.84-12045C>G
ENST00000563917.1:n.529C>G
ENST00000564752.1:c.*13C>G	ENSP00000457822.1:n.*13C>G
ENST00000565471.5:c.170C>G	ENSP00000457384.1:p.Ala57Gly
ENST00000566347.5:c.440C>G	ENSP00000457783.1:p.Ala147Gly
ENST00000567060.5:c.*27C>G	ENSP00000454818.1:n.*27C>G
NM_017882.2:c.629C>G	NP_060352.1:p.Ala210Gly
XR_931861.1:n.851C>G
NM_017882.3:c.629C>G MANE Select	NP_060352.1:p.Ala210Gly