Canonical Allele Identifier: CA7007093
Gene: CLN5 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.76992067C>T
GRCh37 chr13:g.77566202C>T
Revel Score:
ENST00000377453 (MANE Select) 0.022
gnomAD v2:
13:77566202 C / T
gnomAD v4:
chr13-76992067-C-T
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV002025118
ClinVar Variation:
1482216
dbSNP:
61504484
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000485938.4:c.-32C>T ENSP00000482959.3:n.-32C>T
ENST00000636183.2:c.-32C>T ENSP00000490181.2:n.-32C>T
ENST00000636780.2:c.-32C>T ENSP00000489809.2:n.-32C>T
ENST00000377453.7:c.116C>T ENSP00000366673.3:p.Ser39Leu
NM_006493.2:c.116C>T , LRG_692t1:c.116C>T NP_006484.1:p.Ser39Leu
XM_011534917.1:c.116C>T XP_011533219.1:p.Ser39Leu
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