Canonical Allele Identifier: CA313852
Gene: CLN5 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.76991973G>C
GRCh37 chr13:g.77566108G>C
Revel Score:
ENST00000377453 (MANE Select) 0.007
gnomAD v2:
13:77566108 G / C
gnomAD v3:
13:76991973 G / C
gnomAD v4:
chr13-76991973-G-C
Joint Max Group AF 0.00067726 (MID)
Genomes Max Group AF 0.00001973 (NFE)
Exomes Max Group AF 0.00071513 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76991973G>C , CM000675.2:g.76991973G>C GRCh38
NC_000013.10:g.77566108G>C , CM000675.1:g.77566108G>C GRCh37
NC_000013.9:g.76464109G>C NCBI36
NG_009064.1:g.5050G>C , LRG_692:g.5050G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636183.2:c.-126G>C ENSP00000490181.2:n.-126G>C
ENST00000377453.7:c.22G>C ENSP00000366673.3:p.Gly8Arg
NM_006493.2:c.22G>C , LRG_692t1:c.22G>C NP_006484.1:p.Gly8Arg
XM_011534917.1:c.22G>C XP_011533219.1:p.Gly8Arg
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