Canonical Allele Identifier: CA490911778
Gene: CLN6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.68502205A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68209867A>G , CM000677.2:g.68209867A>G GRCh38
NC_000015.9:g.68502205A>G , CM000677.1:g.68502205A>G GRCh37
NC_000015.8:g.66289259A>G NCBI36
NG_008764.2:g.52345T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.543-108T>C MANE Select ENSP00000249806.5:n.543-108T>C
ENST00000562767.2:c.84-12239T>C ENSP00000456336.1:n.84-12239T>C
ENST00000563917.2:n.385-108T>C
ENST00000565471.6:c.84-108T>C ENSP00000457384.1:n.84-108T>C
ENST00000635747.1:c.*446-108T>C ENSP00000490627.1:n.*446-108T>C
ENST00000636212.1:c.*213-108T>C ENSP00000489851.1:n.*213-108T>C
ENST00000636314.1:c.239-108T>C ENSP00000490295.1:n.239-108T>C
ENST00000636674.1:n.1645-108T>C
ENST00000636964.1:n.2071-108T>C
ENST00000637054.1:c.198+8669T>C ENSP00000490807.1:n.198+8669T>C
ENST00000637223.1:c.*257-108T>C ENSP00000490010.1:n.*257-108T>C
ENST00000637329.1:c.512-108T>C
ENST00000637450.1:c.*197-108T>C ENSP00000490204.1:n.*197-108T>C
ENST00000637494.1:c.255-108T>C ENSP00000490057.1:n.255-108T>C
ENST00000637667.1:c.444-108T>C ENSP00000489843.1:n.444-108T>C
ENST00000637823.1:c.368-108T>C
ENST00000637888.1:c.198+8669T>C ENSP00000490546.1:n.198+8669T>C
ENST00000638076.1:c.*146-108T>C ENSP00000490373.1:n.*146-108T>C
ENST00000638144.1:n.186-108T>C
ENST00000646164.1:c.38+8669T>C
ENST00000249806.9:c.543-108T>C ENSP00000249806.5:n.543-108T>C
ENST00000538696.5:c.639-108T>C ENSP00000445770.1:n.639-108T>C
ENST00000562767.1:c.84-12239T>C ENSP00000456336.1:n.84-12239T>C
ENST00000563917.1:n.443-108T>C
ENST00000564752.1:c.569-108T>C ENSP00000457822.1:n.569-108T>C
ENST00000565471.5:c.84-108T>C ENSP00000457384.1:n.84-108T>C
ENST00000566347.5:c.354-108T>C ENSP00000457783.1:n.354-108T>C
ENST00000567060.5:c.298-147T>C ENSP00000454818.1:n.298-147T>C
NM_017882.2:c.543-108T>C NP_060352.1:n.543-108T>C
XR_931861.1:n.765-108T>C
NM_017882.3:c.543-108T>C MANE Select NP_060352.1:n.543-108T>C