Canonical Allele Identifier: CA392972015

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500660G>T (hg19) ; chr15:g.68208322G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208322G>T , CM000677.2:g.68208322G>T	GRCh38
NC_000015.9:g.68500660G>T , CM000677.1:g.68500660G>T	GRCh37
NC_000015.8:g.66287714G>T	NCBI36
NG_008764.2:g.53890C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.754C>A MANE Select	ENSP00000249806.5:p.Arg252Ser
ENST00000562767.2:c.84-10694C>A	ENSP00000456336.1:n.84-10694C>A
ENST00000565471.6:c.295C>A	ENSP00000457384.1:p.Arg99Ser
ENST00000635747.1:c.*657C>A	ENSP00000490627.1:n.*657C>A
ENST00000636212.1:c.*424C>A	ENSP00000489851.1:n.*424C>A
ENST00000636674.1:n.1856C>A
ENST00000636964.1:n.2282C>A
ENST00000637054.1:c.198+10214C>A	ENSP00000490807.1:n.198+10214C>A
ENST00000637329.1:c.723C>A
ENST00000637450.1:c.*408C>A	ENSP00000490204.1:n.*408C>A
ENST00000637494.1:c.466C>A	ENSP00000490057.1:p.Arg156Ser
ENST00000637667.1:c.655C>A	ENSP00000489843.1:p.Arg219Ser
ENST00000637823.1:c.579C>A
ENST00000637888.1:c.198+10214C>A	ENSP00000490546.1:n.198+10214C>A
ENST00000638076.1:c.*357C>A	ENSP00000490373.1:n.*357C>A
ENST00000638144.1:n.397C>A
ENST00000646164.1:c.39-8641C>A
ENST00000249806.9:c.754C>A	ENSP00000249806.5:p.Arg252Ser
ENST00000538696.5:c.850C>A	ENSP00000445770.1:p.Arg284Ser
ENST00000562767.1:c.84-10694C>A	ENSP00000456336.1:n.84-10694C>A
ENST00000565471.5:c.295C>A	ENSP00000457384.1:p.Arg99Ser
ENST00000566347.5:c.565C>A	ENSP00000457783.1:p.Arg189Ser
ENST00000567060.5:c.*152C>A	ENSP00000454818.1:n.*152C>A
NM_017882.2:c.754C>A	NP_060352.1:p.Arg252Ser
NM_017882.3:c.754C>A MANE Select	NP_060352.1:p.Arg252Ser