Canonical Allele Identifier: CA2629162050

Gene: CLN6

Linked Data

• gnomAD v4: 15-68207613-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207613G>C , CM000677.2:g.68207613G>C	GRCh38
NC_000015.9:g.68499951G>C , CM000677.1:g.68499951G>C	GRCh37
NC_000015.8:g.66287005G>C	NCBI36
NG_008764.2:g.54599C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*527C>G MANE Select	ENSP00000249806.5:n.*527C>G
ENST00000562767.2:c.84-9985C>G	ENSP00000456336.1:n.84-9985C>G
ENST00000636964.1:n.2991C>G
ENST00000637054.1:c.199-9985C>G	ENSP00000490807.1:n.199-9985C>G
ENST00000637888.1:c.199-9985C>G	ENSP00000490546.1:n.199-9985C>G
ENST00000638026.1:n.68C>G
ENST00000638076.1:c.*1066C>G	ENSP00000490373.1:n.*1066C>G
ENST00000646164.1:c.39-7932C>G
ENST00000249806.9:c.*527C>G	ENSP00000249806.5:n.*527C>G
ENST00000562767.1:c.84-9985C>G	ENSP00000456336.1:n.84-9985C>G
NM_017882.2:c.*527C>G	NP_060352.1:n.*527C>G
NM_017882.3:c.*527C>G MANE Select	NP_060352.1:n.*527C>G