Canonical Allele Identifier: CA313855

Gene: CLN5

Linked Data

• ClinVar Variation Id: 205123
• ClinVar RCV Id: RCV000187046 ; RCV000405110 ; RCV000514392 ; RCV001083336 ; RCV001111453 ; RCV002314700
• dbSNP Id: rs202118652
• ExAC: 13:77566135 G / C
• gnomAD v2: 13-77566135-G-C
• gnomAD v3: 13-76992000-G-C
• gnomAD v4: 13-76992000-G-C
• MyVariant Identifiers: chr13:g.77566135G>C (hg19) ; chr13:g.76992000G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76992000G>C , CM000675.2:g.76992000G>C	GRCh38
NC_000013.10:g.77566135G>C , CM000675.1:g.77566135G>C	GRCh37
NC_000013.9:g.76464136G>C	NCBI36
NG_009064.1:g.5077G>C , LRG_692:g.5077G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-99G>C	ENSP00000490181.2:n.-99G>C
ENST00000377453.7:c.49G>C	ENSP00000366673.3:p.Gly17Arg
NM_006493.2:c.49G>C , LRG_692t1:c.49G>C	NP_006484.1:p.Gly17Arg
XM_011534917.1:c.49G>C	XP_011533219.1:p.Gly17Arg