Canonical Allele Identifier: CA392973066

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502096A>G (hg19) ; chr15:g.68209758A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209758A>G , CM000677.2:g.68209758A>G	GRCh38
NC_000015.9:g.68502096A>G , CM000677.1:g.68502096A>G	GRCh37
NC_000015.8:g.66289150A>G	NCBI36
NG_008764.2:g.52454T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.544T>C MANE Select	ENSP00000249806.5:p.Tyr182His
ENST00000562767.2:c.84-12130T>C	ENSP00000456336.1:n.84-12130T>C
ENST00000563917.2:n.386T>C
ENST00000565471.6:c.85T>C	ENSP00000457384.1:p.Tyr29His
ENST00000635747.1:c.*447T>C	ENSP00000490627.1:n.*447T>C
ENST00000636212.1:c.*214T>C	ENSP00000489851.1:n.*214T>C
ENST00000636314.1:c.240T>C	ENSP00000490295.1:p.Gly80=
ENST00000636674.1:n.1646T>C
ENST00000636964.1:n.2072T>C
ENST00000637054.1:c.198+8778T>C	ENSP00000490807.1:n.198+8778T>C
ENST00000637223.1:c.*258T>C	ENSP00000490010.1:n.*258T>C
ENST00000637329.1:c.513T>C
ENST00000637450.1:c.*198T>C	ENSP00000490204.1:n.*198T>C
ENST00000637494.1:c.256T>C	ENSP00000490057.1:p.Tyr86His
ENST00000637667.1:c.445T>C	ENSP00000489843.1:p.Tyr149His
ENST00000637823.1:c.369T>C
ENST00000637888.1:c.198+8778T>C	ENSP00000490546.1:n.198+8778T>C
ENST00000638076.1:c.*147T>C	ENSP00000490373.1:n.*147T>C
ENST00000638144.1:n.187T>C
ENST00000646164.1:c.38+8778T>C
ENST00000249806.9:c.544T>C	ENSP00000249806.5:p.Tyr182His
ENST00000538696.5:c.640T>C	ENSP00000445770.1:p.Tyr214His
ENST00000562767.1:c.84-12130T>C	ENSP00000456336.1:n.84-12130T>C
ENST00000563917.1:n.444T>C
ENST00000564752.1:c.570T>C	ENSP00000457822.1:p.Gly190=
ENST00000565471.5:c.85T>C	ENSP00000457384.1:p.Tyr29His
ENST00000566347.5:c.355T>C	ENSP00000457783.1:p.Tyr119His
ENST00000567060.5:c.298-38T>C	ENSP00000454818.1:n.298-38T>C
NM_017882.2:c.544T>C	NP_060352.1:p.Tyr182His
XR_931861.1:n.766T>C
NM_017882.3:c.544T>C MANE Select	NP_060352.1:p.Tyr182His