Canonical Allele Identifier: CA313888
Gene: CLN5 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.76991953T>A
GRCh37 chr13:g.77566088T>A
Revel Score:
ENST00000377453 (MANE Select) 0.064
gnomAD v2:
13:77566088 T / A
gnomAD v4:
chr13-76991953-T-A
Joint Max Group AF 0.00000365 (NFE)
Exomes Max Group AF 0.00000388 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76991953T>A , CM000675.2:g.76991953T>A GRCh38
NC_000013.10:g.77566088T>A , CM000675.1:g.77566088T>A GRCh37
NC_000013.9:g.76464089T>A NCBI36
NG_009064.1:g.5030T>A , LRG_692:g.5030T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636183.2:c.-146T>A ENSP00000490181.2:n.-146T>A
ENST00000377453.7:c.2T>A ENSP00000366673.3:p.Met1Lys
NM_006493.2:c.2T>A , LRG_692t1:c.2T>A NP_006484.1:p.Met1Lys
XM_011534917.1:c.2T>A XP_011533219.1:p.Met1Lys
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