Canonical Allele Identifier: CA388305995
Gene: CLN5 HGNC NCBI
ClinVar RCV:
RCV002303461
ClinVar Variation:
1716397
gnomAD v4:
chr13-76992052-C-A
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
MyVariant.info:
GRCh38 chr13:g.76992052C>A
GRCh37 chr13:g.77566187C>A
Revel Score:
ENST00000377453 (MANE Select) 0.003
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76992052C>A , CM000675.2:g.76992052C>A GRCh38
NC_000013.10:g.77566187C>A , CM000675.1:g.77566187C>A GRCh37
NC_000013.9:g.76464188C>A NCBI36
NG_009064.1:g.5129C>A , LRG_692:g.5129C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636183.2:c.-47C>A ENSP00000490181.2:n.-47C>A
ENST00000636780.2:c.-47C>A ENSP00000489809.2:n.-47C>A
ENST00000377453.7:c.101C>A ENSP00000366673.3:p.Pro34Gln
NM_006493.2:c.101C>A , LRG_692t1:c.101C>A NP_006484.1:p.Pro34Gln
XM_011534917.1:c.101C>A XP_011533219.1:p.Pro34Gln
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