Canonical Allele Identifier: CA392972882

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502028G>T (hg19) ; chr15:g.68209690G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209690G>T , CM000677.2:g.68209690G>T	GRCh38
NC_000015.9:g.68502028G>T , CM000677.1:g.68502028G>T	GRCh37
NC_000015.8:g.66289082G>T	NCBI36
NG_008764.2:g.52522C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.612C>A MANE Select	ENSP00000249806.5:p.Ser204Arg
ENST00000562767.2:c.84-12062C>A	ENSP00000456336.1:n.84-12062C>A
ENST00000563917.2:n.454C>A
ENST00000565471.6:c.153C>A	ENSP00000457384.1:p.Ser51Arg
ENST00000635747.1:c.*515C>A	ENSP00000490627.1:n.*515C>A
ENST00000636212.1:c.*282C>A	ENSP00000489851.1:n.*282C>A
ENST00000636314.1:c.308C>A	ENSP00000490295.1:p.Ala103Asp
ENST00000636674.1:n.1714C>A
ENST00000636964.1:n.2140C>A
ENST00000637054.1:c.198+8846C>A	ENSP00000490807.1:n.198+8846C>A
ENST00000637329.1:c.581C>A
ENST00000637450.1:c.*266C>A	ENSP00000490204.1:n.*266C>A
ENST00000637494.1:c.324C>A	ENSP00000490057.1:p.Ser108Arg
ENST00000637667.1:c.513C>A	ENSP00000489843.1:p.Ser171Arg
ENST00000637823.1:c.437C>A
ENST00000637888.1:c.198+8846C>A	ENSP00000490546.1:n.198+8846C>A
ENST00000638076.1:c.*215C>A	ENSP00000490373.1:n.*215C>A
ENST00000638144.1:n.255C>A
ENST00000646164.1:c.38+8846C>A
ENST00000249806.9:c.612C>A	ENSP00000249806.5:p.Ser204Arg
ENST00000538696.5:c.708C>A	ENSP00000445770.1:p.Ser236Arg
ENST00000562767.1:c.84-12062C>A	ENSP00000456336.1:n.84-12062C>A
ENST00000563917.1:n.512C>A
ENST00000564752.1:c.638C>A	ENSP00000457822.1:p.Ala213Asp
ENST00000565471.5:c.153C>A	ENSP00000457384.1:p.Ser51Arg
ENST00000566347.5:c.423C>A	ENSP00000457783.1:p.Ser141Arg
ENST00000567060.5:c.*10C>A	ENSP00000454818.1:n.*10C>A
NM_017882.2:c.612C>A	NP_060352.1:p.Ser204Arg
XR_931861.1:n.834C>A
NM_017882.3:c.612C>A MANE Select	NP_060352.1:p.Ser204Arg