Canonical Allele Identifier: CA392972792

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68501982A>C (hg19) ; chr15:g.68209644A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209644A>C , CM000677.2:g.68209644A>C	GRCh38
NC_000015.9:g.68501982A>C , CM000677.1:g.68501982A>C	GRCh37
NC_000015.8:g.66289036A>C	NCBI36
NG_008764.2:g.52568T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.658T>G MANE Select	ENSP00000249806.5:p.Tyr220Asp
ENST00000562767.2:c.84-12016T>G	ENSP00000456336.1:n.84-12016T>G
ENST00000563917.2:n.500T>G
ENST00000565471.6:c.199T>G	ENSP00000457384.1:p.Tyr67Asp
ENST00000635747.1:c.*561T>G	ENSP00000490627.1:n.*561T>G
ENST00000636212.1:c.*328T>G	ENSP00000489851.1:n.*328T>G
ENST00000636674.1:n.1760T>G
ENST00000636964.1:n.2186T>G
ENST00000637054.1:c.198+8892T>G	ENSP00000490807.1:n.198+8892T>G
ENST00000637329.1:c.627T>G
ENST00000637450.1:c.*312T>G	ENSP00000490204.1:n.*312T>G
ENST00000637494.1:c.370T>G	ENSP00000490057.1:p.Tyr124Asp
ENST00000637667.1:c.559T>G	ENSP00000489843.1:p.Tyr187Asp
ENST00000637823.1:c.483T>G
ENST00000637888.1:c.198+8892T>G	ENSP00000490546.1:n.198+8892T>G
ENST00000638076.1:c.*261T>G	ENSP00000490373.1:n.*261T>G
ENST00000638144.1:n.301T>G
ENST00000646164.1:c.38+8892T>G
ENST00000249806.9:c.658T>G	ENSP00000249806.5:p.Tyr220Asp
ENST00000538696.5:c.754T>G	ENSP00000445770.1:p.Tyr252Asp
ENST00000562767.1:c.84-12016T>G	ENSP00000456336.1:n.84-12016T>G
ENST00000563917.1:n.558T>G
ENST00000564752.1:c.*42T>G	ENSP00000457822.1:n.*42T>G
ENST00000565471.5:c.199T>G	ENSP00000457384.1:p.Tyr67Asp
ENST00000566347.5:c.469T>G	ENSP00000457783.1:p.Tyr157Asp
ENST00000567060.5:c.*56T>G	ENSP00000454818.1:n.*56T>G
NM_017882.2:c.658T>G	NP_060352.1:p.Tyr220Asp
XR_931861.1:n.880T>G
NM_017882.3:c.658T>G MANE Select	NP_060352.1:p.Tyr220Asp