Canonical Allele Identifier: CA313858
Gene: CLN5 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.76992067C>G
GRCh37 chr13:g.77566202C>G
Revel Score:
ENST00000377453 (MANE Select) 0.052
gnomAD v2:
13:77566202 C / G
gnomAD v3:
13:76992067 C / G
gnomAD v4:
chr13-76992067-C-G
Joint Max Group AF 0.00001774 (EAS)
Exomes Max Group AF 0.00000836 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76992067C>G , CM000675.2:g.76992067C>G GRCh38
NC_000013.10:g.77566202C>G , CM000675.1:g.77566202C>G GRCh37
NC_000013.9:g.76464203C>G NCBI36
NG_009064.1:g.5144C>G , LRG_692:g.5144C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000485938.4:c.-32C>G ENSP00000482959.3:n.-32C>G
ENST00000636183.2:c.-32C>G ENSP00000490181.2:n.-32C>G
ENST00000636780.2:c.-32C>G ENSP00000489809.2:n.-32C>G
ENST00000377453.7:c.116C>G ENSP00000366673.3:p.Ser39Trp
NM_006493.2:c.116C>G , LRG_692t1:c.116C>G NP_006484.1:p.Ser39Trp
XM_011534917.1:c.116C>G XP_011533219.1:p.Ser39Trp
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