Canonical Allele Identifier: CA313858

Gene: CLN5

Linked Data

• ClinVar Variation Id: 205124
• ClinVar RCV Id: RCV000187047 ; RCV001058811 ; RCV001729445
• dbSNP Id: rs61504484
• ExAC: 13:77566202 C / G
• gnomAD v2: 13-77566202-C-G
• gnomAD v3: 13-76992067-C-G
• gnomAD v4: 13-76992067-C-G
• MyVariant Identifiers: chr13:g.77566202C>G (hg19) ; chr13:g.76992067C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76992067C>G , CM000675.2:g.76992067C>G	GRCh38
NC_000013.10:g.77566202C>G , CM000675.1:g.77566202C>G	GRCh37
NC_000013.9:g.76464203C>G	NCBI36
NG_009064.1:g.5144C>G , LRG_692:g.5144C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485938.4:c.-32C>G	ENSP00000482959.3:n.-32C>G
ENST00000636183.2:c.-32C>G	ENSP00000490181.2:n.-32C>G
ENST00000636780.2:c.-32C>G	ENSP00000489809.2:n.-32C>G
ENST00000377453.7:c.116C>G	ENSP00000366673.3:p.Ser39Trp
NM_006493.2:c.116C>G , LRG_692t1:c.116C>G	NP_006484.1:p.Ser39Trp
XM_011534917.1:c.116C>G	XP_011533219.1:p.Ser39Trp