Canonical Allele Identifier: CA152430

Gene: CLN5

Linked Data

• ClinVar Variation Id: 128782
• ClinVar RCV Id: RCV000116755 ; RCV000337559 ; RCV000675514 ; RCV001109122 ; RCV001272136 ; RCV002312076
• dbSNP Id: rs77416795
• ExAC: 13:77566090 C / T
• gnomAD v2: 13-77566090-C-T
• gnomAD v3: 13-76991955-C-T
• gnomAD v4: 13-76991955-C-T
• MyVariant Identifiers: chr13:g.77566090C>T (hg19) ; chr13:g.76991955C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76991955C>T , CM000675.2:g.76991955C>T	GRCh38
NC_000013.10:g.77566090C>T , CM000675.1:g.77566090C>T	GRCh37
NC_000013.9:g.76464091C>T	NCBI36
NG_009064.1:g.5032C>T , LRG_692:g.5032C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-144C>T	ENSP00000490181.2:n.-144C>T
ENST00000377453.7:c.4C>T	ENSP00000366673.3:p.Arg2Cys
NM_006493.2:c.4C>T , LRG_692t1:c.4C>T	NP_006484.1:p.Arg2Cys
XM_011534917.1:c.4C>T	XP_011533219.1:p.Arg2Cys