Canonical Allele Identifier: CA2629162057
Gene: CLN6 HGNC NCBI

Linked Data

gnomAD v4: 15-68207618-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68207618A>C , CM000677.2:g.68207618A>C GRCh38
NC_000015.9:g.68499956A>C , CM000677.1:g.68499956A>C GRCh37
NC_000015.8:g.66287010A>C NCBI36
NG_008764.2:g.54594T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000249806.11:c.*522T>G MANE Select ENSP00000249806.5:n.*522T>G
ENST00000562767.2:c.84-9990T>G ENSP00000456336.1:n.84-9990T>G
ENST00000636964.1:n.2986T>G
ENST00000637054.1:c.199-9990T>G ENSP00000490807.1:n.199-9990T>G
ENST00000637888.1:c.199-9990T>G ENSP00000490546.1:n.199-9990T>G
ENST00000638026.1:n.63T>G
ENST00000638076.1:c.*1061T>G ENSP00000490373.1:n.*1061T>G
ENST00000646164.1:c.39-7937T>G
ENST00000249806.9:c.*522T>G ENSP00000249806.5:n.*522T>G
ENST00000562767.1:c.84-9990T>G ENSP00000456336.1:n.84-9990T>G
NM_017882.2:c.*522T>G NP_060352.1:n.*522T>G
NM_017882.3:c.*522T>G MANE Select NP_060352.1:n.*522T>G
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