Canonical Allele Identifier: CA392972901

Gene: CLN6

Linked Data

• dbSNP Id: rs2093198979
• MyVariant Identifiers: chr15:g.68502035G>C (hg19) ; chr15:g.68209697G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209697G>C , CM000677.2:g.68209697G>C	GRCh38
NC_000015.9:g.68502035G>C , CM000677.1:g.68502035G>C	GRCh37
NC_000015.8:g.66289089G>C	NCBI36
NG_008764.2:g.52515C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.605C>G MANE Select	ENSP00000249806.5:p.Ala202Gly
ENST00000562767.2:c.84-12069C>G	ENSP00000456336.1:n.84-12069C>G
ENST00000563917.2:n.447C>G
ENST00000565471.6:c.146C>G	ENSP00000457384.1:p.Ala49Gly
ENST00000635747.1:c.*508C>G	ENSP00000490627.1:n.*508C>G
ENST00000636212.1:c.*275C>G	ENSP00000489851.1:n.*275C>G
ENST00000636314.1:c.301C>G	ENSP00000490295.1:p.Leu101Val
ENST00000636674.1:n.1707C>G
ENST00000636964.1:n.2133C>G
ENST00000637054.1:c.198+8839C>G	ENSP00000490807.1:n.198+8839C>G
ENST00000637329.1:c.574C>G
ENST00000637450.1:c.*259C>G	ENSP00000490204.1:n.*259C>G
ENST00000637494.1:c.317C>G	ENSP00000490057.1:p.Ala106Gly
ENST00000637667.1:c.506C>G	ENSP00000489843.1:p.Ala169Gly
ENST00000637823.1:c.430C>G
ENST00000637888.1:c.198+8839C>G	ENSP00000490546.1:n.198+8839C>G
ENST00000638076.1:c.*208C>G	ENSP00000490373.1:n.*208C>G
ENST00000638144.1:n.248C>G
ENST00000646164.1:c.38+8839C>G
ENST00000249806.9:c.605C>G	ENSP00000249806.5:p.Ala202Gly
ENST00000538696.5:c.701C>G	ENSP00000445770.1:p.Ala234Gly
ENST00000562767.1:c.84-12069C>G	ENSP00000456336.1:n.84-12069C>G
ENST00000563917.1:n.505C>G
ENST00000564752.1:c.631C>G	ENSP00000457822.1:p.Leu211Val
ENST00000565471.5:c.146C>G	ENSP00000457384.1:p.Ala49Gly
ENST00000566347.5:c.416C>G	ENSP00000457783.1:p.Ala139Gly
ENST00000567060.5:c.*3C>G	ENSP00000454818.1:n.*3C>G
NM_017882.2:c.605C>G	NP_060352.1:p.Ala202Gly
XR_931861.1:n.827C>G
NM_017882.3:c.605C>G MANE Select	NP_060352.1:p.Ala202Gly