Canonical Allele Identifier: CA7007061
Gene: CLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 515683
ClinVar RCV Id: RCV000612639 RCV001109121
dbSNP Id: rs772316134
ExAC: 13:77566079 G / A
gnomAD v2: 13-77566079-G-A
gnomAD v3: 13-76991944-G-A
gnomAD v4: 13-76991944-G-A
MyVariant Identifiers: chr13:g.77566079G>A (hg19) chr13:g.76991944G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76991944G>A , CM000675.2:g.76991944G>A GRCh38
NC_000013.10:g.77566079G>A , CM000675.1:g.77566079G>A GRCh37
NC_000013.9:g.76464080G>A NCBI36
NG_009064.1:g.5021G>A , LRG_692:g.5021G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636183.2:c.-155G>A ENSP00000490181.2:n.-155G>A
ENST00000377453.7:c.-8G>A ENSP00000366673.3:n.-8G>A
NM_006493.2:c.-8G>A , LRG_692t1:c.-8G>A NP_006484.1:n.-8G>A
XM_011534917.1:c.-8G>A XP_011533219.1:n.-8G>A
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