Canonical Allele Identifier: CA490911568

Gene: CLN6

Linked Data

• dbSNP Id: rs2141137209
• MyVariant Identifiers: chr15:g.68501995T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209657T>C , CM000677.2:g.68209657T>C	GRCh38
NC_000015.9:g.68501995T>C , CM000677.1:g.68501995T>C	GRCh37
NC_000015.8:g.66289049T>C	NCBI36
NG_008764.2:g.52555A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.645A>G MANE Select	ENSP00000249806.5:p.Ala215=
ENST00000562767.2:c.84-12029A>G	ENSP00000456336.1:n.84-12029A>G
ENST00000563917.2:n.487A>G
ENST00000565471.6:c.186A>G	ENSP00000457384.1:p.Ala62=
ENST00000635747.1:c.*548A>G	ENSP00000490627.1:n.*548A>G
ENST00000636212.1:c.*315A>G	ENSP00000489851.1:n.*315A>G
ENST00000636674.1:n.1747A>G
ENST00000636964.1:n.2173A>G
ENST00000637054.1:c.198+8879A>G	ENSP00000490807.1:n.198+8879A>G
ENST00000637329.1:c.614A>G
ENST00000637450.1:c.*299A>G	ENSP00000490204.1:n.*299A>G
ENST00000637494.1:c.357A>G	ENSP00000490057.1:p.Ala119=
ENST00000637667.1:c.546A>G	ENSP00000489843.1:p.Ala182=
ENST00000637823.1:c.470A>G
ENST00000637888.1:c.198+8879A>G	ENSP00000490546.1:n.198+8879A>G
ENST00000638076.1:c.*248A>G	ENSP00000490373.1:n.*248A>G
ENST00000638144.1:n.288A>G
ENST00000646164.1:c.38+8879A>G
ENST00000249806.9:c.645A>G	ENSP00000249806.5:p.Ala215=
ENST00000538696.5:c.741A>G	ENSP00000445770.1:p.Ala247=
ENST00000562767.1:c.84-12029A>G	ENSP00000456336.1:n.84-12029A>G
ENST00000563917.1:n.545A>G
ENST00000564752.1:c.*29A>G	ENSP00000457822.1:n.*29A>G
ENST00000565471.5:c.186A>G	ENSP00000457384.1:p.Ala62=
ENST00000566347.5:c.456A>G	ENSP00000457783.1:p.Ala152=
ENST00000567060.5:c.*43A>G	ENSP00000454818.1:n.*43A>G
NM_017882.2:c.645A>G	NP_060352.1:p.Ala215=
XR_931861.1:n.867A>G
NM_017882.3:c.645A>G MANE Select	NP_060352.1:p.Ala215=