Canonical Allele Identifier: CA7630459

Gene: CLN6

Linked Data

• dbSNP Id: rs767409056
• ExAC: 15:68500569 T / G
• gnomAD v2: 15-68500569-T-G
• MyVariant Identifiers: chr15:g.68500569T>G (hg19) ; chr15:g.68208231T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208231T>G , CM000677.2:g.68208231T>G	GRCh38
NC_000015.9:g.68500569T>G , CM000677.1:g.68500569T>G	GRCh37
NC_000015.8:g.66287623T>G	NCBI36
NG_008764.2:g.53981A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.845A>C MANE Select	ENSP00000249806.5:p.Asn282Thr
ENST00000562767.2:c.84-10603A>C	ENSP00000456336.1:n.84-10603A>C
ENST00000565471.6:c.386A>C	ENSP00000457384.1:p.Asn129Thr
ENST00000635747.1:c.*748A>C	ENSP00000490627.1:n.*748A>C
ENST00000636212.1:c.*515A>C	ENSP00000489851.1:n.*515A>C
ENST00000636674.1:n.1947A>C
ENST00000636964.1:n.2373A>C
ENST00000637054.1:c.198+10305A>C	ENSP00000490807.1:n.198+10305A>C
ENST00000637329.1:c.814A>C
ENST00000637450.1:c.*499A>C	ENSP00000490204.1:n.*499A>C
ENST00000637494.1:c.557A>C	ENSP00000490057.1:p.Asn186Thr
ENST00000637667.1:c.746A>C	ENSP00000489843.1:p.Asn249Thr
ENST00000637823.1:c.670A>C
ENST00000637888.1:c.198+10305A>C	ENSP00000490546.1:n.198+10305A>C
ENST00000638076.1:c.*448A>C	ENSP00000490373.1:n.*448A>C
ENST00000638144.1:n.488A>C
ENST00000646164.1:c.39-8550A>C
ENST00000249806.9:c.845A>C	ENSP00000249806.5:p.Asn282Thr
ENST00000538696.5:c.941A>C	ENSP00000445770.1:p.Asn314Thr
ENST00000562767.1:c.84-10603A>C	ENSP00000456336.1:n.84-10603A>C
ENST00000565471.5:c.386A>C	ENSP00000457384.1:p.Asn129Thr
ENST00000566347.5:c.656A>C	ENSP00000457783.1:p.Asn219Thr
ENST00000567060.5:c.*243A>C	ENSP00000454818.1:n.*243A>C
NM_017882.2:c.845A>C	NP_060352.1:p.Asn282Thr
NM_017882.3:c.845A>C MANE Select	NP_060352.1:p.Asn282Thr