Canonical Allele Identifier: CA392974311

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68506629T>G (hg19) ; chr15:g.68214291T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214291T>G , CM000677.2:g.68214291T>G	GRCh38
NC_000015.9:g.68506629T>G , CM000677.1:g.68506629T>G	GRCh37
NC_000015.8:g.66293683T>G	NCBI36
NG_008764.2:g.47921A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.296A>C MANE Select	ENSP00000249806.5:p.Lys99Thr
ENST00000562767.2:c.83+15211A>C	ENSP00000456336.1:n.83+15211A>C
ENST00000563917.2:n.138A>C
ENST00000565471.6:c.84-4532A>C	ENSP00000457384.1:n.84-4532A>C
ENST00000635747.1:c.*199A>C	ENSP00000490627.1:n.*199A>C
ENST00000635754.1:n.1318A>C
ENST00000636020.1:n.428A>C
ENST00000636212.1:c.296A>C	ENSP00000489851.1:p.Lys99Thr
ENST00000636314.1:c.181A>C	ENSP00000490295.1:p.Arg61=
ENST00000637054.1:c.198+4245A>C	ENSP00000490807.1:n.198+4245A>C
ENST00000637223.1:c.*199A>C	ENSP00000490010.1:n.*199A>C
ENST00000637329.1:c.207A>C
ENST00000637450.1:c.181A>C	ENSP00000490204.1:p.Ser61Arg
ENST00000637494.1:c.199-2973A>C	ENSP00000490057.1:n.199-2973A>C
ENST00000637667.1:c.199-2428A>C	ENSP00000489843.1:n.199-2428A>C
ENST00000637823.1:c.222A>C
ENST00000637888.1:c.198+4245A>C	ENSP00000490546.1:n.198+4245A>C
ENST00000638076.1:c.296A>C	ENSP00000490373.1:p.Lys99Thr
ENST00000638144.1:n.128A>C
ENST00000646164.1:c.38+4245A>C
ENST00000249806.9:c.296A>C	ENSP00000249806.5:p.Lys99Thr
ENST00000538696.5:c.392A>C	ENSP00000445770.1:p.Lys131Thr
ENST00000562767.1:c.83+15211A>C	ENSP00000456336.1:n.83+15211A>C
ENST00000563917.1:n.77A>C
ENST00000564752.1:c.296A>C	ENSP00000457822.1:p.Lys99Thr
ENST00000564846.1:n.728A>C
ENST00000565471.5:c.84-4532A>C	ENSP00000457384.1:n.84-4532A>C
ENST00000566347.5:c.296A>C	ENSP00000457783.1:p.Lys99Thr
ENST00000567060.5:c.296A>C	ENSP00000454818.1:p.Lys99Thr
NM_017882.2:c.296A>C	NP_060352.1:p.Lys99Thr
XR_931861.1:n.399A>C
NM_017882.3:c.296A>C MANE Select	NP_060352.1:p.Lys99Thr