Canonical Allele Identifier: CA388305690

Gene: CLN5

Linked Data

• ClinVar Variation Id: 577247
• ClinVar RCV Id: RCV000699946 ; RCV001249271
• dbSNP Id: rs1465531119
• gnomAD v2: 13-77566121-G-T
• gnomAD v4: 13-76991986-G-T
• MyVariant Identifiers: chr13:g.77566121G>T (hg19) ; chr13:g.76991986G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76991986G>T , CM000675.2:g.76991986G>T	GRCh38
NC_000013.10:g.77566121G>T , CM000675.1:g.77566121G>T	GRCh37
NC_000013.9:g.76464122G>T	NCBI36
NG_009064.1:g.5063G>T , LRG_692:g.5063G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-113G>T	ENSP00000490181.2:n.-113G>T
ENST00000377453.7:c.35G>T	ENSP00000366673.3:p.Gly12Val
NM_006493.2:c.35G>T , LRG_692t1:c.35G>T	NP_006484.1:p.Gly12Val
XM_011534917.1:c.35G>T	XP_011533219.1:p.Gly12Val