Canonical Allele Identifier: CA392971986

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500644C>T (hg19) ; chr15:g.68208306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208306C>T , CM000677.2:g.68208306C>T	GRCh38
NC_000015.9:g.68500644C>T , CM000677.1:g.68500644C>T	GRCh37
NC_000015.8:g.66287698C>T	NCBI36
NG_008764.2:g.53906G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.770G>A MANE Select	ENSP00000249806.5:p.Ser257Asn
ENST00000562767.2:c.84-10678G>A	ENSP00000456336.1:n.84-10678G>A
ENST00000565471.6:c.311G>A	ENSP00000457384.1:p.Ser104Asn
ENST00000635747.1:c.*673G>A	ENSP00000490627.1:n.*673G>A
ENST00000636212.1:c.*440G>A	ENSP00000489851.1:n.*440G>A
ENST00000636674.1:n.1872G>A
ENST00000636964.1:n.2298G>A
ENST00000637054.1:c.198+10230G>A	ENSP00000490807.1:n.198+10230G>A
ENST00000637329.1:c.739G>A
ENST00000637450.1:c.*424G>A	ENSP00000490204.1:n.*424G>A
ENST00000637494.1:c.482G>A	ENSP00000490057.1:p.Ser161Asn
ENST00000637667.1:c.671G>A	ENSP00000489843.1:p.Ser224Asn
ENST00000637823.1:c.595G>A
ENST00000637888.1:c.198+10230G>A	ENSP00000490546.1:n.198+10230G>A
ENST00000638076.1:c.*373G>A	ENSP00000490373.1:n.*373G>A
ENST00000638144.1:n.413G>A
ENST00000646164.1:c.39-8625G>A
ENST00000249806.9:c.770G>A	ENSP00000249806.5:p.Ser257Asn
ENST00000538696.5:c.866G>A	ENSP00000445770.1:p.Ser289Asn
ENST00000562767.1:c.84-10678G>A	ENSP00000456336.1:n.84-10678G>A
ENST00000565471.5:c.311G>A	ENSP00000457384.1:p.Ser104Asn
ENST00000566347.5:c.581G>A	ENSP00000457783.1:p.Ser194Asn
ENST00000567060.5:c.*168G>A	ENSP00000454818.1:n.*168G>A
NM_017882.2:c.770G>A	NP_060352.1:p.Ser257Asn
NM_017882.3:c.770G>A MANE Select	NP_060352.1:p.Ser257Asn