Canonical Allele Identifier: CA392973152

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68503625T>C (hg19) ; chr15:g.68211287T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211287T>C , CM000677.2:g.68211287T>C	GRCh38
NC_000015.9:g.68503625T>C , CM000677.1:g.68503625T>C	GRCh37
NC_000015.8:g.66290679T>C	NCBI36
NG_008764.2:g.50925A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.518A>G MANE Select	ENSP00000249806.5:p.Asp173Gly
ENST00000562767.2:c.84-13659A>G	ENSP00000456336.1:n.84-13659A>G
ENST00000563917.2:n.360A>G
ENST00000565471.6:c.84-1528A>G	ENSP00000457384.1:n.84-1528A>G
ENST00000635747.1:c.*421A>G	ENSP00000490627.1:n.*421A>G
ENST00000636212.1:c.*188A>G	ENSP00000489851.1:n.*188A>G
ENST00000636314.1:c.214A>G	ENSP00000490295.1:p.Met72Val
ENST00000636674.1:n.1620A>G
ENST00000636964.1:n.2046A>G
ENST00000637054.1:c.198+7249A>G	ENSP00000490807.1:n.198+7249A>G
ENST00000637223.1:c.*232A>G	ENSP00000490010.1:n.*232A>G
ENST00000637329.1:c.487A>G
ENST00000637450.1:c.*172A>G	ENSP00000490204.1:n.*172A>G
ENST00000637494.1:c.230A>G	ENSP00000490057.1:p.Asp77Gly
ENST00000637667.1:c.419A>G	ENSP00000489843.1:p.Asp140Gly
ENST00000637823.1:c.343A>G
ENST00000637888.1:c.198+7249A>G	ENSP00000490546.1:n.198+7249A>G
ENST00000638076.1:c.*121A>G	ENSP00000490373.1:n.*121A>G
ENST00000638144.1:n.161A>G
ENST00000646164.1:c.38+7249A>G
ENST00000249806.9:c.518A>G	ENSP00000249806.5:p.Asp173Gly
ENST00000538696.5:c.614A>G	ENSP00000445770.1:p.Asp205Gly
ENST00000562767.1:c.84-13659A>G	ENSP00000456336.1:n.84-13659A>G
ENST00000563917.1:n.418A>G
ENST00000564752.1:c.544A>G	ENSP00000457822.1:p.Met182Val
ENST00000565471.5:c.84-1528A>G	ENSP00000457384.1:n.84-1528A>G
ENST00000566347.5:c.329A>G	ENSP00000457783.1:p.Asp110Gly
ENST00000567060.5:c.298-1567A>G	ENSP00000454818.1:n.298-1567A>G
NM_017882.2:c.518A>G	NP_060352.1:p.Asp173Gly
XR_931861.1:n.740A>G
NM_017882.3:c.518A>G MANE Select	NP_060352.1:p.Asp173Gly