Canonical Allele Identifier: CA7630482

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208355T>C , CM000677.2:g.68208355T>C	GRCh38
NC_000015.9:g.68500693T>C , CM000677.1:g.68500693T>C	GRCh37
NC_000015.8:g.66287747T>C	NCBI36
NG_008764.2:g.53857A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017882.3:c.721A>G MANE Select	NP_060352.1:p.Met241Val
ENST00000249806.11:c.721A>G MANE Select	ENSP00000249806.5:p.Met241Val
NM_017882.2:c.721A>G	NP_060352.1:p.Met241Val
ENST00000249806.9:c.721A>G	ENSP00000249806.5:p.Met241Val
ENST00000538696.5:c.817A>G	ENSP00000445770.1:p.Met273Val
ENST00000562767.1:c.84-10727A>G	ENSP00000456336.1:n.84-10727A>G
ENST00000562767.2:c.84-10727A>G	ENSP00000456336.1:n.84-10727A>G
ENST00000564752.1:c.*105A>G	ENSP00000457822.1:n.*105A>G
ENST00000565471.5:c.262A>G	ENSP00000457384.1:p.Met88Val
ENST00000565471.6:c.262A>G	ENSP00000457384.1:p.Met88Val
ENST00000566347.5:c.532A>G	ENSP00000457783.1:p.Met178Val
ENST00000567060.5:c.*119A>G	ENSP00000454818.1:n.*119A>G
ENST00000635747.1:c.*624A>G	ENSP00000490627.1:n.*624A>G
ENST00000636212.1:c.*391A>G	ENSP00000489851.1:n.*391A>G
ENST00000636674.1:n.1823A>G
ENST00000636964.1:n.2249A>G
ENST00000637054.1:c.198+10181A>G	ENSP00000490807.1:n.198+10181A>G
ENST00000637329.1:c.690A>G
ENST00000637450.1:c.*375A>G	ENSP00000490204.1:n.*375A>G
ENST00000637494.1:c.433A>G	ENSP00000490057.1:p.Met145Val
ENST00000637667.1:c.622A>G	ENSP00000489843.1:p.Met208Val
ENST00000637823.1:c.546A>G
ENST00000637888.1:c.198+10181A>G	ENSP00000490546.1:n.198+10181A>G
ENST00000638076.1:c.*324A>G	ENSP00000490373.1:n.*324A>G
ENST00000638144.1:n.364A>G
ENST00000646164.1:c.39-8674A>G