Canonical Allele Identifier: CA392971988

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500645T>G (hg19) ; chr15:g.68208307T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208307T>G , CM000677.2:g.68208307T>G	GRCh38
NC_000015.9:g.68500645T>G , CM000677.1:g.68500645T>G	GRCh37
NC_000015.8:g.66287699T>G	NCBI36
NG_008764.2:g.53905A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.769A>C MANE Select	ENSP00000249806.5:p.Ser257Arg
ENST00000562767.2:c.84-10679A>C	ENSP00000456336.1:n.84-10679A>C
ENST00000565471.6:c.310A>C	ENSP00000457384.1:p.Ser104Arg
ENST00000635747.1:c.*672A>C	ENSP00000490627.1:n.*672A>C
ENST00000636212.1:c.*439A>C	ENSP00000489851.1:n.*439A>C
ENST00000636674.1:n.1871A>C
ENST00000636964.1:n.2297A>C
ENST00000637054.1:c.198+10229A>C	ENSP00000490807.1:n.198+10229A>C
ENST00000637329.1:c.738A>C
ENST00000637450.1:c.*423A>C	ENSP00000490204.1:n.*423A>C
ENST00000637494.1:c.481A>C	ENSP00000490057.1:p.Ser161Arg
ENST00000637667.1:c.670A>C	ENSP00000489843.1:p.Ser224Arg
ENST00000637823.1:c.594A>C
ENST00000637888.1:c.198+10229A>C	ENSP00000490546.1:n.198+10229A>C
ENST00000638076.1:c.*372A>C	ENSP00000490373.1:n.*372A>C
ENST00000638144.1:n.412A>C
ENST00000646164.1:c.39-8626A>C
ENST00000249806.9:c.769A>C	ENSP00000249806.5:p.Ser257Arg
ENST00000538696.5:c.865A>C	ENSP00000445770.1:p.Ser289Arg
ENST00000562767.1:c.84-10679A>C	ENSP00000456336.1:n.84-10679A>C
ENST00000565471.5:c.310A>C	ENSP00000457384.1:p.Ser104Arg
ENST00000566347.5:c.580A>C	ENSP00000457783.1:p.Ser194Arg
ENST00000567060.5:c.*167A>C	ENSP00000454818.1:n.*167A>C
NM_017882.2:c.769A>C	NP_060352.1:p.Ser257Arg
NM_017882.3:c.769A>C MANE Select	NP_060352.1:p.Ser257Arg