Canonical Allele Identifier: CA313849

Gene: CLN5

Linked Data

• ClinVar Variation Id: 205121
• ClinVar RCV Id: RCV000187044
• dbSNP Id: rs796052342
• gnomAD v2: 13-77566091-G-C
• gnomAD v3: 13-76991956-G-C
• gnomAD v4: 13-76991956-G-C
• COSMIC: COSM6075042
• MyVariant Identifiers: chr13:g.77566091G>C (hg19) ; chr13:g.76991956G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76991956G>C , CM000675.2:g.76991956G>C	GRCh38
NC_000013.10:g.77566091G>C , CM000675.1:g.77566091G>C	GRCh37
NC_000013.9:g.76464092G>C	NCBI36
NG_009064.1:g.5033G>C , LRG_692:g.5033G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-143G>C	ENSP00000490181.2:n.-143G>C
ENST00000377453.7:c.5G>C	ENSP00000366673.3:p.Arg2Pro
NM_006493.2:c.5G>C , LRG_692t1:c.5G>C	NP_006484.1:p.Arg2Pro
XM_011534917.1:c.5G>C	XP_011533219.1:p.Arg2Pro