Canonical Allele Identifier: CA392971981

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500642T>G (hg19) ; chr15:g.68208304T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208304T>G , CM000677.2:g.68208304T>G	GRCh38
NC_000015.9:g.68500642T>G , CM000677.1:g.68500642T>G	GRCh37
NC_000015.8:g.66287696T>G	NCBI36
NG_008764.2:g.53908A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.772A>C MANE Select	ENSP00000249806.5:p.Asn258His
ENST00000562767.2:c.84-10676A>C	ENSP00000456336.1:n.84-10676A>C
ENST00000565471.6:c.313A>C	ENSP00000457384.1:p.Asn105His
ENST00000635747.1:c.*675A>C	ENSP00000490627.1:n.*675A>C
ENST00000636212.1:c.*442A>C	ENSP00000489851.1:n.*442A>C
ENST00000636674.1:n.1874A>C
ENST00000636964.1:n.2300A>C
ENST00000637054.1:c.198+10232A>C	ENSP00000490807.1:n.198+10232A>C
ENST00000637329.1:c.741A>C
ENST00000637450.1:c.*426A>C	ENSP00000490204.1:n.*426A>C
ENST00000637494.1:c.484A>C	ENSP00000490057.1:p.Asn162His
ENST00000637667.1:c.673A>C	ENSP00000489843.1:p.Asn225His
ENST00000637823.1:c.597A>C
ENST00000637888.1:c.198+10232A>C	ENSP00000490546.1:n.198+10232A>C
ENST00000638076.1:c.*375A>C	ENSP00000490373.1:n.*375A>C
ENST00000638144.1:n.415A>C
ENST00000646164.1:c.39-8623A>C
ENST00000249806.9:c.772A>C	ENSP00000249806.5:p.Asn258His
ENST00000538696.5:c.868A>C	ENSP00000445770.1:p.Asn290His
ENST00000562767.1:c.84-10676A>C	ENSP00000456336.1:n.84-10676A>C
ENST00000565471.5:c.313A>C	ENSP00000457384.1:p.Asn105His
ENST00000566347.5:c.583A>C	ENSP00000457783.1:p.Asn195His
ENST00000567060.5:c.*170A>C	ENSP00000454818.1:n.*170A>C
NM_017882.2:c.772A>C	NP_060352.1:p.Asn258His
NM_017882.3:c.772A>C MANE Select	NP_060352.1:p.Asn258His