Canonical Allele Identifier: CA272390332

Gene: CLN6

Linked Data

• dbSNP Id: rs996668001
• gnomAD v3: 15-68218623-A-G
• gnomAD v4: 15-68218623-A-G
• MyVariant Identifiers: chr15:g.68510961A>G (hg19) ; chr15:g.68218623A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218623A>G , CM000677.2:g.68218623A>G	GRCh38
NC_000015.9:g.68510961A>G , CM000677.1:g.68510961A>G	GRCh37
NC_000015.8:g.66298015A>G	NCBI36
NG_008764.2:g.43589T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.111T>C MANE Select	ENSP00000249806.5:p.Ala37=
ENST00000562767.2:c.83+10879T>C	ENSP00000456336.1:n.83+10879T>C
ENST00000563917.2:n.41-4235T>C
ENST00000565471.6:c.84-8864T>C	ENSP00000457384.1:n.84-8864T>C
ENST00000569336.2:n.20T>C
ENST00000635747.1:c.*14T>C	ENSP00000490627.1:n.*14T>C
ENST00000636020.1:n.243T>C
ENST00000636212.1:c.111T>C	ENSP00000489851.1:p.Ala37=
ENST00000636314.1:c.84-4235T>C	ENSP00000490295.1:n.84-4235T>C
ENST00000636876.1:c.*131T>C	ENSP00000489950.1:n.*131T>C
ENST00000637054.1:c.111T>C	ENSP00000490807.1:p.Ala37=
ENST00000637223.1:c.*14T>C	ENSP00000490010.1:n.*14T>C
ENST00000637329.1:c.22T>C
ENST00000637450.1:c.84-4235T>C	ENSP00000490204.1:n.84-4235T>C
ENST00000637494.1:c.111T>C	ENSP00000490057.1:p.Ala37=
ENST00000637667.1:c.111T>C	ENSP00000489843.1:p.Ala37=
ENST00000637823.1:c.37T>C
ENST00000637888.1:c.111T>C	ENSP00000490546.1:p.Ala37=
ENST00000638076.1:c.111T>C	ENSP00000490373.1:p.Ala37=
ENST00000638144.1:n.31-4235T>C
ENST00000249806.9:c.111T>C	ENSP00000249806.5:p.Ala37=
ENST00000538696.5:c.207T>C	ENSP00000445770.1:p.Ala69=
ENST00000562767.1:c.83+10879T>C	ENSP00000456336.1:n.83+10879T>C
ENST00000564752.1:c.111T>C	ENSP00000457822.1:p.Ala37=
ENST00000564846.1:n.543T>C
ENST00000565471.5:c.84-8864T>C	ENSP00000457384.1:n.84-8864T>C
ENST00000566347.5:c.111T>C	ENSP00000457783.1:p.Ala37=
ENST00000567060.5:c.111T>C	ENSP00000454818.1:p.Ala37=
ENST00000569336.1:n.197T>C
NM_017882.2:c.111T>C	NP_060352.1:p.Ala37=
XR_931861.1:n.214T>C
NM_017882.3:c.111T>C MANE Select	NP_060352.1:p.Ala37=