Canonical Allele Identifier: CA313852

Gene: CLN5

Linked Data

• ClinVar Variation Id: 205122
• ClinVar RCV Id: RCV000187045 ; RCV000814647 ; RCV001109123 ; RCV002513988
• dbSNP Id: rs762873839
• ExAC: 13:77566108 G / C
• gnomAD v2: 13-77566108-G-C
• gnomAD v3: 13-76991973-G-C
• gnomAD v4: 13-76991973-G-C
• MyVariant Identifiers: chr13:g.77566108G>C (hg19) ; chr13:g.76991973G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76991973G>C , CM000675.2:g.76991973G>C	GRCh38
NC_000013.10:g.77566108G>C , CM000675.1:g.77566108G>C	GRCh37
NC_000013.9:g.76464109G>C	NCBI36
NG_009064.1:g.5050G>C , LRG_692:g.5050G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-126G>C	ENSP00000490181.2:n.-126G>C
ENST00000377453.7:c.22G>C	ENSP00000366673.3:p.Gly8Arg
NM_006493.2:c.22G>C , LRG_692t1:c.22G>C	NP_006484.1:p.Gly8Arg
XM_011534917.1:c.22G>C	XP_011533219.1:p.Gly8Arg