Canonical Allele Identifier: CA392972223

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500710A>C (hg19) ; chr15:g.68208372A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208372A>C , CM000677.2:g.68208372A>C	GRCh38
NC_000015.9:g.68500710A>C , CM000677.1:g.68500710A>C	GRCh37
NC_000015.8:g.66287764A>C	NCBI36
NG_008764.2:g.53840T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.704T>G MANE Select	ENSP00000249806.5:p.Ile235Ser
ENST00000562767.2:c.84-10744T>G	ENSP00000456336.1:n.84-10744T>G
ENST00000563917.2:n.546T>G
ENST00000565471.6:c.245T>G	ENSP00000457384.1:p.Ile82Ser
ENST00000635747.1:c.*607T>G	ENSP00000490627.1:n.*607T>G
ENST00000636212.1:c.*374T>G	ENSP00000489851.1:n.*374T>G
ENST00000636674.1:n.1806T>G
ENST00000636964.1:n.2232T>G
ENST00000637054.1:c.198+10164T>G	ENSP00000490807.1:n.198+10164T>G
ENST00000637329.1:c.673T>G
ENST00000637450.1:c.*358T>G	ENSP00000490204.1:n.*358T>G
ENST00000637494.1:c.416T>G	ENSP00000490057.1:p.Ile139Ser
ENST00000637667.1:c.605T>G	ENSP00000489843.1:p.Ile202Ser
ENST00000637823.1:c.529T>G
ENST00000637888.1:c.198+10164T>G	ENSP00000490546.1:n.198+10164T>G
ENST00000638076.1:c.*307T>G	ENSP00000490373.1:n.*307T>G
ENST00000638144.1:n.347T>G
ENST00000646164.1:c.39-8691T>G
ENST00000249806.9:c.704T>G	ENSP00000249806.5:p.Ile235Ser
ENST00000538696.5:c.800T>G	ENSP00000445770.1:p.Ile267Ser
ENST00000562767.1:c.84-10744T>G	ENSP00000456336.1:n.84-10744T>G
ENST00000564752.1:c.*88T>G	ENSP00000457822.1:n.*88T>G
ENST00000565471.5:c.245T>G	ENSP00000457384.1:p.Ile82Ser
ENST00000566347.5:c.515T>G	ENSP00000457783.1:p.Ile172Ser
ENST00000567060.5:c.*102T>G	ENSP00000454818.1:n.*102T>G
NM_017882.2:c.704T>G	NP_060352.1:p.Ile235Ser
NM_017882.3:c.704T>G MANE Select	NP_060352.1:p.Ile235Ser