Canonical Allele Identifier: CA392972956

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502056C>G (hg19) ; chr15:g.68209718C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209718C>G , CM000677.2:g.68209718C>G	GRCh38
NC_000015.9:g.68502056C>G , CM000677.1:g.68502056C>G	GRCh37
NC_000015.8:g.66289110C>G	NCBI36
NG_008764.2:g.52494G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.584G>C MANE Select	ENSP00000249806.5:p.Gly195Ala
ENST00000562767.2:c.84-12090G>C	ENSP00000456336.1:n.84-12090G>C
ENST00000563917.2:n.426G>C
ENST00000565471.6:c.125G>C	ENSP00000457384.1:p.Gly42Ala
ENST00000635747.1:c.*487G>C	ENSP00000490627.1:n.*487G>C
ENST00000636212.1:c.*254G>C	ENSP00000489851.1:n.*254G>C
ENST00000636314.1:c.280G>C	ENSP00000490295.1:p.Ala94Pro
ENST00000636674.1:n.1686G>C
ENST00000636964.1:n.2112G>C
ENST00000637054.1:c.198+8818G>C	ENSP00000490807.1:n.198+8818G>C
ENST00000637223.1:c.*298G>C	ENSP00000490010.1:n.*298G>C
ENST00000637329.1:c.553G>C
ENST00000637450.1:c.*238G>C	ENSP00000490204.1:n.*238G>C
ENST00000637494.1:c.296G>C	ENSP00000490057.1:p.Gly99Ala
ENST00000637667.1:c.485G>C	ENSP00000489843.1:p.Gly162Ala
ENST00000637823.1:c.409G>C
ENST00000637888.1:c.198+8818G>C	ENSP00000490546.1:n.198+8818G>C
ENST00000638076.1:c.*187G>C	ENSP00000490373.1:n.*187G>C
ENST00000638144.1:n.227G>C
ENST00000646164.1:c.38+8818G>C
ENST00000249806.9:c.584G>C	ENSP00000249806.5:p.Gly195Ala
ENST00000538696.5:c.680G>C	ENSP00000445770.1:p.Gly227Ala
ENST00000562767.1:c.84-12090G>C	ENSP00000456336.1:n.84-12090G>C
ENST00000563917.1:n.484G>C
ENST00000564752.1:c.610G>C	ENSP00000457822.1:p.Ala204Pro
ENST00000565471.5:c.125G>C	ENSP00000457384.1:p.Gly42Ala
ENST00000566347.5:c.395G>C	ENSP00000457783.1:p.Gly132Ala
ENST00000567060.5:c.300G>C	ENSP00000454818.1:p.Arg100=
NM_017882.2:c.584G>C	NP_060352.1:p.Gly195Ala
XR_931861.1:n.806G>C
NM_017882.3:c.584G>C MANE Select	NP_060352.1:p.Gly195Ala