Canonical Allele Identifier: CA392971993

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500648C>G (hg19) ; chr15:g.68208310C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208310C>G , CM000677.2:g.68208310C>G	GRCh38
NC_000015.9:g.68500648C>G , CM000677.1:g.68500648C>G	GRCh37
NC_000015.8:g.66287702C>G	NCBI36
NG_008764.2:g.53902G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.766G>C MANE Select	ENSP00000249806.5:p.Asp256His
ENST00000562767.2:c.84-10682G>C	ENSP00000456336.1:n.84-10682G>C
ENST00000565471.6:c.307G>C	ENSP00000457384.1:p.Asp103His
ENST00000635747.1:c.*669G>C	ENSP00000490627.1:n.*669G>C
ENST00000636212.1:c.*436G>C	ENSP00000489851.1:n.*436G>C
ENST00000636674.1:n.1868G>C
ENST00000636964.1:n.2294G>C
ENST00000637054.1:c.198+10226G>C	ENSP00000490807.1:n.198+10226G>C
ENST00000637329.1:c.735G>C
ENST00000637450.1:c.*420G>C	ENSP00000490204.1:n.*420G>C
ENST00000637494.1:c.478G>C	ENSP00000490057.1:p.Asp160His
ENST00000637667.1:c.667G>C	ENSP00000489843.1:p.Asp223His
ENST00000637823.1:c.591G>C
ENST00000637888.1:c.198+10226G>C	ENSP00000490546.1:n.198+10226G>C
ENST00000638076.1:c.*369G>C	ENSP00000490373.1:n.*369G>C
ENST00000638144.1:n.409G>C
ENST00000646164.1:c.39-8629G>C
ENST00000249806.9:c.766G>C	ENSP00000249806.5:p.Asp256His
ENST00000538696.5:c.862G>C	ENSP00000445770.1:p.Asp288His
ENST00000562767.1:c.84-10682G>C	ENSP00000456336.1:n.84-10682G>C
ENST00000565471.5:c.307G>C	ENSP00000457384.1:p.Asp103His
ENST00000566347.5:c.577G>C	ENSP00000457783.1:p.Asp193His
ENST00000567060.5:c.*164G>C	ENSP00000454818.1:n.*164G>C
NM_017882.2:c.766G>C	NP_060352.1:p.Asp256His
NM_017882.3:c.766G>C MANE Select	NP_060352.1:p.Asp256His