Canonical Allele Identifier: CA392972190

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500702A>C (hg19) ; chr15:g.68208364A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208364A>C , CM000677.2:g.68208364A>C	GRCh38
NC_000015.9:g.68500702A>C , CM000677.1:g.68500702A>C	GRCh37
NC_000015.8:g.66287756A>C	NCBI36
NG_008764.2:g.53848T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.712T>G MANE Select	ENSP00000249806.5:p.Phe238Val
ENST00000562767.2:c.84-10736T>G	ENSP00000456336.1:n.84-10736T>G
ENST00000563917.2:n.554T>G
ENST00000565471.6:c.253T>G	ENSP00000457384.1:p.Phe85Val
ENST00000635747.1:c.*615T>G	ENSP00000490627.1:n.*615T>G
ENST00000636212.1:c.*382T>G	ENSP00000489851.1:n.*382T>G
ENST00000636674.1:n.1814T>G
ENST00000636964.1:n.2240T>G
ENST00000637054.1:c.198+10172T>G	ENSP00000490807.1:n.198+10172T>G
ENST00000637329.1:c.681T>G
ENST00000637450.1:c.*366T>G	ENSP00000490204.1:n.*366T>G
ENST00000637494.1:c.424T>G	ENSP00000490057.1:p.Phe142Val
ENST00000637667.1:c.613T>G	ENSP00000489843.1:p.Phe205Val
ENST00000637823.1:c.537T>G
ENST00000637888.1:c.198+10172T>G	ENSP00000490546.1:n.198+10172T>G
ENST00000638076.1:c.*315T>G	ENSP00000490373.1:n.*315T>G
ENST00000638144.1:n.355T>G
ENST00000646164.1:c.39-8683T>G
ENST00000249806.9:c.712T>G	ENSP00000249806.5:p.Phe238Val
ENST00000538696.5:c.808T>G	ENSP00000445770.1:p.Phe270Val
ENST00000562767.1:c.84-10736T>G	ENSP00000456336.1:n.84-10736T>G
ENST00000564752.1:c.*96T>G	ENSP00000457822.1:n.*96T>G
ENST00000565471.5:c.253T>G	ENSP00000457384.1:p.Phe85Val
ENST00000566347.5:c.523T>G	ENSP00000457783.1:p.Phe175Val
ENST00000567060.5:c.*110T>G	ENSP00000454818.1:n.*110T>G
NM_017882.2:c.712T>G	NP_060352.1:p.Phe238Val
NM_017882.3:c.712T>G MANE Select	NP_060352.1:p.Phe238Val