Canonical Allele Identifier: CA392971937

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500623G>C (hg19) ; chr15:g.68208285G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208285G>C , CM000677.2:g.68208285G>C	GRCh38
NC_000015.9:g.68500623G>C , CM000677.1:g.68500623G>C	GRCh37
NC_000015.8:g.66287677G>C	NCBI36
NG_008764.2:g.53927C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.791C>G MANE Select	ENSP00000249806.5:p.Ser264Cys
ENST00000562767.2:c.84-10657C>G	ENSP00000456336.1:n.84-10657C>G
ENST00000565471.6:c.332C>G	ENSP00000457384.1:p.Ser111Cys
ENST00000635747.1:c.*694C>G	ENSP00000490627.1:n.*694C>G
ENST00000636212.1:c.*461C>G	ENSP00000489851.1:n.*461C>G
ENST00000636674.1:n.1893C>G
ENST00000636964.1:n.2319C>G
ENST00000637054.1:c.198+10251C>G	ENSP00000490807.1:n.198+10251C>G
ENST00000637329.1:c.760C>G
ENST00000637450.1:c.*445C>G	ENSP00000490204.1:n.*445C>G
ENST00000637494.1:c.503C>G	ENSP00000490057.1:p.Ser168Cys
ENST00000637667.1:c.692C>G	ENSP00000489843.1:p.Ser231Cys
ENST00000637823.1:c.616C>G
ENST00000637888.1:c.198+10251C>G	ENSP00000490546.1:n.198+10251C>G
ENST00000638076.1:c.*394C>G	ENSP00000490373.1:n.*394C>G
ENST00000638144.1:n.434C>G
ENST00000646164.1:c.39-8604C>G
ENST00000249806.9:c.791C>G	ENSP00000249806.5:p.Ser264Cys
ENST00000538696.5:c.887C>G	ENSP00000445770.1:p.Ser296Cys
ENST00000562767.1:c.84-10657C>G	ENSP00000456336.1:n.84-10657C>G
ENST00000565471.5:c.332C>G	ENSP00000457384.1:p.Ser111Cys
ENST00000566347.5:c.602C>G	ENSP00000457783.1:p.Ser201Cys
ENST00000567060.5:c.*189C>G	ENSP00000454818.1:n.*189C>G
NM_017882.2:c.791C>G	NP_060352.1:p.Ser264Cys
NM_017882.3:c.791C>G MANE Select	NP_060352.1:p.Ser264Cys