Canonical Allele Identifier: CA392971990

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500647T>G (hg19) ; chr15:g.68208309T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208309T>G , CM000677.2:g.68208309T>G	GRCh38
NC_000015.9:g.68500647T>G , CM000677.1:g.68500647T>G	GRCh37
NC_000015.8:g.66287701T>G	NCBI36
NG_008764.2:g.53903A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.767A>C MANE Select	ENSP00000249806.5:p.Asp256Ala
ENST00000562767.2:c.84-10681A>C	ENSP00000456336.1:n.84-10681A>C
ENST00000565471.6:c.308A>C	ENSP00000457384.1:p.Asp103Ala
ENST00000635747.1:c.*670A>C	ENSP00000490627.1:n.*670A>C
ENST00000636212.1:c.*437A>C	ENSP00000489851.1:n.*437A>C
ENST00000636674.1:n.1869A>C
ENST00000636964.1:n.2295A>C
ENST00000637054.1:c.198+10227A>C	ENSP00000490807.1:n.198+10227A>C
ENST00000637329.1:c.736A>C
ENST00000637450.1:c.*421A>C	ENSP00000490204.1:n.*421A>C
ENST00000637494.1:c.479A>C	ENSP00000490057.1:p.Asp160Ala
ENST00000637667.1:c.668A>C	ENSP00000489843.1:p.Asp223Ala
ENST00000637823.1:c.592A>C
ENST00000637888.1:c.198+10227A>C	ENSP00000490546.1:n.198+10227A>C
ENST00000638076.1:c.*370A>C	ENSP00000490373.1:n.*370A>C
ENST00000638144.1:n.410A>C
ENST00000646164.1:c.39-8628A>C
ENST00000249806.9:c.767A>C	ENSP00000249806.5:p.Asp256Ala
ENST00000538696.5:c.863A>C	ENSP00000445770.1:p.Asp288Ala
ENST00000562767.1:c.84-10681A>C	ENSP00000456336.1:n.84-10681A>C
ENST00000565471.5:c.308A>C	ENSP00000457384.1:p.Asp103Ala
ENST00000566347.5:c.578A>C	ENSP00000457783.1:p.Asp193Ala
ENST00000567060.5:c.*165A>C	ENSP00000454818.1:n.*165A>C
NM_017882.2:c.767A>C	NP_060352.1:p.Asp256Ala
NM_017882.3:c.767A>C MANE Select	NP_060352.1:p.Asp256Ala