Canonical Allele Identifier: CA313900
Gene: CLN5 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.76992067C>A
GRCh37 chr13:g.77566202C>A
gnomAD v2:
13:77566202 C / A
gnomAD v3:
13:76992067 C / A
gnomAD v4:
chr13-76992067-C-A
Joint Max Group AF 0.00007741 (AMR)
Genomes Max Group AF 0.00021485 (AMR)
Exomes Max Group AF 0.00000743 (AMR)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000485938.4:c.-32C>A ENSP00000482959.3:n.-32C>A
ENST00000636183.2:c.-32C>A ENSP00000490181.2:n.-32C>A
ENST00000636780.2:c.-32C>A ENSP00000489809.2:n.-32C>A
ENST00000377453.7:c.116C>A ENSP00000366673.3:p.Ser39Ter
NM_006493.2:c.116C>A , LRG_692t1:c.116C>A NP_006484.1:p.Ser39Ter
XM_011534917.1:c.116C>A XP_011533219.1:p.Ser39Ter
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