Canonical Allele Identifier: CA392971822

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500581G>C (hg19) ; chr15:g.68208243G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208243G>C , CM000677.2:g.68208243G>C	GRCh38
NC_000015.9:g.68500581G>C , CM000677.1:g.68500581G>C	GRCh37
NC_000015.8:g.66287635G>C	NCBI36
NG_008764.2:g.53969C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.833C>G MANE Select	ENSP00000249806.5:p.Ala278Gly
ENST00000562767.2:c.84-10615C>G	ENSP00000456336.1:n.84-10615C>G
ENST00000565471.6:c.374C>G	ENSP00000457384.1:p.Ala125Gly
ENST00000635747.1:c.*736C>G	ENSP00000490627.1:n.*736C>G
ENST00000636212.1:c.*503C>G	ENSP00000489851.1:n.*503C>G
ENST00000636674.1:n.1935C>G
ENST00000636964.1:n.2361C>G
ENST00000637054.1:c.198+10293C>G	ENSP00000490807.1:n.198+10293C>G
ENST00000637329.1:c.802C>G
ENST00000637450.1:c.*487C>G	ENSP00000490204.1:n.*487C>G
ENST00000637494.1:c.545C>G	ENSP00000490057.1:p.Ala182Gly
ENST00000637667.1:c.734C>G	ENSP00000489843.1:p.Ala245Gly
ENST00000637823.1:c.658C>G
ENST00000637888.1:c.198+10293C>G	ENSP00000490546.1:n.198+10293C>G
ENST00000638076.1:c.*436C>G	ENSP00000490373.1:n.*436C>G
ENST00000638144.1:n.476C>G
ENST00000646164.1:c.39-8562C>G
ENST00000249806.9:c.833C>G	ENSP00000249806.5:p.Ala278Gly
ENST00000538696.5:c.929C>G	ENSP00000445770.1:p.Ala310Gly
ENST00000562767.1:c.84-10615C>G	ENSP00000456336.1:n.84-10615C>G
ENST00000565471.5:c.374C>G	ENSP00000457384.1:p.Ala125Gly
ENST00000566347.5:c.644C>G	ENSP00000457783.1:p.Ala215Gly
ENST00000567060.5:c.*231C>G	ENSP00000454818.1:n.*231C>G
NM_017882.2:c.833C>G	NP_060352.1:p.Ala278Gly
NM_017882.3:c.833C>G MANE Select	NP_060352.1:p.Ala278Gly