Canonical Allele Identifier: CA295605

Gene: CLN5

Linked Data

• ClinVar Variation Id: 166884
• ClinVar RCV Id: RCV000711260 ; RCV000778400 ; RCV000989146 ; RCV002316962 ; RCV003398802
• dbSNP Id: rs201615354
• ExAC: 13:77566088 T / C
• gnomAD v2: 13-77566088-T-C
• gnomAD v3: 13-76991953-T-C
• gnomAD v4: 13-76991953-T-C
• MyVariant Identifiers: chr13:g.77566088T>C (hg19) ; chr13:g.76991953T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-146T>C	ENSP00000490181.2:n.-146T>C
ENST00000377453.7:c.2T>C	ENSP00000366673.3:p.Met1Thr
NM_006493.2:c.2T>C , LRG_692t1:c.2T>C	NP_006484.1:p.Met1Thr
XM_011534917.1:c.2T>C	XP_011533219.1:p.Met1Thr