Canonical Allele Identifier: CA491100040

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208347-G-C
• MyVariant Identifiers: chr15:g.68500685G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208347G>C , CM000677.2:g.68208347G>C	GRCh38
NC_000015.9:g.68500685G>C , CM000677.1:g.68500685G>C	GRCh37
NC_000015.8:g.66287739G>C	NCBI36
NG_008764.2:g.53865C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.729C>G MANE Select	ENSP00000249806.5:p.Ala243=
ENST00000562767.2:c.84-10719C>G	ENSP00000456336.1:n.84-10719C>G
ENST00000565471.6:c.270C>G	ENSP00000457384.1:p.Ala90=
ENST00000635747.1:c.*632C>G	ENSP00000490627.1:n.*632C>G
ENST00000636212.1:c.*399C>G	ENSP00000489851.1:n.*399C>G
ENST00000636674.1:n.1831C>G
ENST00000636964.1:n.2257C>G
ENST00000637054.1:c.198+10189C>G	ENSP00000490807.1:n.198+10189C>G
ENST00000637329.1:c.698C>G
ENST00000637450.1:c.*383C>G	ENSP00000490204.1:n.*383C>G
ENST00000637494.1:c.441C>G	ENSP00000490057.1:p.Ala147=
ENST00000637667.1:c.630C>G	ENSP00000489843.1:p.Ala210=
ENST00000637823.1:c.554C>G
ENST00000637888.1:c.198+10189C>G	ENSP00000490546.1:n.198+10189C>G
ENST00000638076.1:c.*332C>G	ENSP00000490373.1:n.*332C>G
ENST00000638144.1:n.372C>G
ENST00000646164.1:c.39-8666C>G
ENST00000249806.9:c.729C>G	ENSP00000249806.5:p.Ala243=
ENST00000538696.5:c.825C>G	ENSP00000445770.1:p.Ala275=
ENST00000562767.1:c.84-10719C>G	ENSP00000456336.1:n.84-10719C>G
ENST00000564752.1:c.*113C>G	ENSP00000457822.1:n.*113C>G
ENST00000565471.5:c.270C>G	ENSP00000457384.1:p.Ala90=
ENST00000566347.5:c.540C>G	ENSP00000457783.1:p.Ala180=
ENST00000567060.5:c.*127C>G	ENSP00000454818.1:n.*127C>G
NM_017882.2:c.729C>G	NP_060352.1:p.Ala243=
NM_017882.3:c.729C>G MANE Select	NP_060352.1:p.Ala243=