Canonical Allele Identifier: CA7007079
Gene: CLN5 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.76992000G>A
GRCh37 chr13:g.77566135G>A
Revel Score:
ENST00000377453 (MANE Select) 0.014
gnomAD v2:
13:77566135 G / A
gnomAD v4:
chr13-76992000-G-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV001238736
ClinVar Variation:
964504
dbSNP:
202118652
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76992000G>A , CM000675.2:g.76992000G>A GRCh38
NC_000013.10:g.77566135G>A , CM000675.1:g.77566135G>A GRCh37
NC_000013.9:g.76464136G>A NCBI36
NG_009064.1:g.5077G>A , LRG_692:g.5077G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636183.2:c.-99G>A ENSP00000490181.2:n.-99G>A
ENST00000377453.7:c.49G>A ENSP00000366673.3:p.Gly17Arg
NM_006493.2:c.49G>A , LRG_692t1:c.49G>A NP_006484.1:p.Gly17Arg
XM_011534917.1:c.49G>A XP_011533219.1:p.Gly17Arg
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