Canonical Allele Identifier: CA313888

Gene: CLN5

Linked Data

• ClinVar Variation Id: 205134
• ClinVar RCV Id: RCV000187058 ; RCV000672217 ; RCV002054194
• dbSNP Id: rs201615354
• gnomAD v2: 13-77566088-T-A
• gnomAD v4: 13-76991953-T-A
• MyVariant Identifiers: chr13:g.77566088T>A (hg19) ; chr13:g.76991953T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76991953T>A , CM000675.2:g.76991953T>A	GRCh38
NC_000013.10:g.77566088T>A , CM000675.1:g.77566088T>A	GRCh37
NC_000013.9:g.76464089T>A	NCBI36
NG_009064.1:g.5030T>A , LRG_692:g.5030T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-146T>A	ENSP00000490181.2:n.-146T>A
ENST00000377453.7:c.2T>A	ENSP00000366673.3:p.Met1Lys
NM_006493.2:c.2T>A , LRG_692t1:c.2T>A	NP_006484.1:p.Met1Lys
XM_011534917.1:c.2T>A	XP_011533219.1:p.Met1Lys