Canonical Allele Identifier: CA252175543

Gene: CLN5

Linked Data

• ClinVar Variation Id: 1430492
• ClinVar RCV Id: RCV001952452
• dbSNP Id: rs1037355085
• gnomAD v4: 13-76991974-G-C
• MyVariant Identifiers: chr13:g.77566109G>C (hg19) ; chr13:g.76991974G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76991974G>C , CM000675.2:g.76991974G>C	GRCh38
NC_000013.10:g.77566109G>C , CM000675.1:g.77566109G>C	GRCh37
NC_000013.9:g.76464110G>C	NCBI36
NG_009064.1:g.5051G>C , LRG_692:g.5051G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-125G>C	ENSP00000490181.2:n.-125G>C
ENST00000377453.7:c.23G>C	ENSP00000366673.3:p.Gly8Ala
NM_006493.2:c.23G>C , LRG_692t1:c.23G>C	NP_006484.1:p.Gly8Ala
XM_011534917.1:c.23G>C	XP_011533219.1:p.Gly8Ala