Canonical Allele Identifier: CA295605
Gene: CLN5 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.76991953T>C
GRCh37 chr13:g.77566088T>C
Revel Score:
ENST00000377453 (MANE Select) 0.059
gnomAD v2:
13:77566088 T / C
gnomAD v3:
13:76991953 T / C
gnomAD v4:
chr13-76991953-T-C
Joint Max Group AF 0.0017371 (NFE)
Genomes Max Group AF 0.00111706 (NFE)
Exomes Max Group AF 0.00176285 (NFE)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000636183.2:c.-146T>C ENSP00000490181.2:n.-146T>C
ENST00000377453.7:c.2T>C ENSP00000366673.3:p.Met1Thr
NM_006493.2:c.2T>C , LRG_692t1:c.2T>C NP_006484.1:p.Met1Thr
XM_011534917.1:c.2T>C XP_011533219.1:p.Met1Thr
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