Canonical Allele Identifier: CA313894

Gene: CLN5

Linked Data

• ClinVar Variation Id: 205136
• ClinVar RCV Id: RCV000187060 ; RCV000686964 ; RCV001785511 ; RCV002516985
• dbSNP Id: rs773979248
• ExAC: 13:77566138 C / A
• gnomAD v2: 13-77566138-C-A
• gnomAD v4: 13-76992003-C-A
• MyVariant Identifiers: chr13:g.77566138C>A (hg19) ; chr13:g.76992003C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76992003C>A , CM000675.2:g.76992003C>A	GRCh38
NC_000013.10:g.77566138C>A , CM000675.1:g.77566138C>A	GRCh37
NC_000013.9:g.76464139C>A	NCBI36
NG_009064.1:g.5080C>A , LRG_692:g.5080C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-96C>A	ENSP00000490181.2:n.-96C>A
ENST00000377453.7:c.52C>A	ENSP00000366673.3:p.Gln18Lys
NM_006493.2:c.52C>A , LRG_692t1:c.52C>A	NP_006484.1:p.Gln18Lys
XM_011534917.1:c.52C>A	XP_011533219.1:p.Gln18Lys