Canonical Allele Identifier: CA392972888

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502030T>G (hg19) ; chr15:g.68209692T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209692T>G , CM000677.2:g.68209692T>G	GRCh38
NC_000015.9:g.68502030T>G , CM000677.1:g.68502030T>G	GRCh37
NC_000015.8:g.66289084T>G	NCBI36
NG_008764.2:g.52520A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.610A>C MANE Select	ENSP00000249806.5:p.Ser204Arg
ENST00000562767.2:c.84-12064A>C	ENSP00000456336.1:n.84-12064A>C
ENST00000563917.2:n.452A>C
ENST00000565471.6:c.151A>C	ENSP00000457384.1:p.Ser51Arg
ENST00000635747.1:c.*513A>C	ENSP00000490627.1:n.*513A>C
ENST00000636212.1:c.*280A>C	ENSP00000489851.1:n.*280A>C
ENST00000636314.1:c.306A>C	ENSP00000490295.1:p.Arg102Ser
ENST00000636674.1:n.1712A>C
ENST00000636964.1:n.2138A>C
ENST00000637054.1:c.198+8844A>C	ENSP00000490807.1:n.198+8844A>C
ENST00000637329.1:c.579A>C
ENST00000637450.1:c.*264A>C	ENSP00000490204.1:n.*264A>C
ENST00000637494.1:c.322A>C	ENSP00000490057.1:p.Ser108Arg
ENST00000637667.1:c.511A>C	ENSP00000489843.1:p.Ser171Arg
ENST00000637823.1:c.435A>C
ENST00000637888.1:c.198+8844A>C	ENSP00000490546.1:n.198+8844A>C
ENST00000638076.1:c.*213A>C	ENSP00000490373.1:n.*213A>C
ENST00000638144.1:n.253A>C
ENST00000646164.1:c.38+8844A>C
ENST00000249806.9:c.610A>C	ENSP00000249806.5:p.Ser204Arg
ENST00000538696.5:c.706A>C	ENSP00000445770.1:p.Ser236Arg
ENST00000562767.1:c.84-12064A>C	ENSP00000456336.1:n.84-12064A>C
ENST00000563917.1:n.510A>C
ENST00000564752.1:c.636A>C	ENSP00000457822.1:p.Arg212Ser
ENST00000565471.5:c.151A>C	ENSP00000457384.1:p.Ser51Arg
ENST00000566347.5:c.421A>C	ENSP00000457783.1:p.Ser141Arg
ENST00000567060.5:c.*8A>C	ENSP00000454818.1:n.*8A>C
NM_017882.2:c.610A>C	NP_060352.1:p.Ser204Arg
XR_931861.1:n.832A>C
NM_017882.3:c.610A>C MANE Select	NP_060352.1:p.Ser204Arg