Canonical Allele Identifier: CA392972890

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502031C>G (hg19) ; chr15:g.68209693C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209693C>G , CM000677.2:g.68209693C>G	GRCh38
NC_000015.9:g.68502031C>G , CM000677.1:g.68502031C>G	GRCh37
NC_000015.8:g.66289085C>G	NCBI36
NG_008764.2:g.52519G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.609G>C MANE Select	ENSP00000249806.5:p.Glu203Asp
ENST00000562767.2:c.84-12065G>C	ENSP00000456336.1:n.84-12065G>C
ENST00000563917.2:n.451G>C
ENST00000565471.6:c.150G>C	ENSP00000457384.1:p.Glu50Asp
ENST00000635747.1:c.*512G>C	ENSP00000490627.1:n.*512G>C
ENST00000636212.1:c.*279G>C	ENSP00000489851.1:n.*279G>C
ENST00000636314.1:c.305G>C	ENSP00000490295.1:p.Arg102Thr
ENST00000636674.1:n.1711G>C
ENST00000636964.1:n.2137G>C
ENST00000637054.1:c.198+8843G>C	ENSP00000490807.1:n.198+8843G>C
ENST00000637329.1:c.578G>C
ENST00000637450.1:c.*263G>C	ENSP00000490204.1:n.*263G>C
ENST00000637494.1:c.321G>C	ENSP00000490057.1:p.Glu107Asp
ENST00000637667.1:c.510G>C	ENSP00000489843.1:p.Glu170Asp
ENST00000637823.1:c.434G>C
ENST00000637888.1:c.198+8843G>C	ENSP00000490546.1:n.198+8843G>C
ENST00000638076.1:c.*212G>C	ENSP00000490373.1:n.*212G>C
ENST00000638144.1:n.252G>C
ENST00000646164.1:c.38+8843G>C
ENST00000249806.9:c.609G>C	ENSP00000249806.5:p.Glu203Asp
ENST00000538696.5:c.705G>C	ENSP00000445770.1:p.Glu235Asp
ENST00000562767.1:c.84-12065G>C	ENSP00000456336.1:n.84-12065G>C
ENST00000563917.1:n.509G>C
ENST00000564752.1:c.635G>C	ENSP00000457822.1:p.Arg212Thr
ENST00000565471.5:c.150G>C	ENSP00000457384.1:p.Glu50Asp
ENST00000566347.5:c.420G>C	ENSP00000457783.1:p.Glu140Asp
ENST00000567060.5:c.*7G>C	ENSP00000454818.1:n.*7G>C
NM_017882.2:c.609G>C	NP_060352.1:p.Glu203Asp
XR_931861.1:n.831G>C
NM_017882.3:c.609G>C MANE Select	NP_060352.1:p.Glu203Asp