Canonical Allele Identifier: CA388305995

Gene: CLN5

Linked Data

• ClinVar Variation Id: 1716397
• ClinVar RCV Id: RCV002303461
• gnomAD v4: 13-76992052-C-A
• MyVariant Identifiers: chr13:g.77566187C>A (hg19) ; chr13:g.76992052C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76992052C>A , CM000675.2:g.76992052C>A	GRCh38
NC_000013.10:g.77566187C>A , CM000675.1:g.77566187C>A	GRCh37
NC_000013.9:g.76464188C>A	NCBI36
NG_009064.1:g.5129C>A , LRG_692:g.5129C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-47C>A	ENSP00000490181.2:n.-47C>A
ENST00000636780.2:c.-47C>A	ENSP00000489809.2:n.-47C>A
ENST00000377453.7:c.101C>A	ENSP00000366673.3:p.Pro34Gln
NM_006493.2:c.101C>A , LRG_692t1:c.101C>A	NP_006484.1:p.Pro34Gln
XM_011534917.1:c.101C>A	XP_011533219.1:p.Pro34Gln