Canonical Allele Identifier: CA340000

Gene: CLN5

Linked Data

• ClinVar Variation Id: 2565
• ClinVar RCV Id: RCV000002674 ; RCV000689128
• dbSNP Id: rs104894385
• ExAC: 13:77566311 G / A
• gnomAD v2: 13-77566311-G-A
• gnomAD v4: 13-76992176-G-A
• MyVariant Identifiers: chr13:g.77566311G>A (hg19) ; chr13:g.76992176G>A (hg38)
• PubMed: PMID:9662406 ; PMID:20301601

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76992176G>A , CM000675.2:g.76992176G>A	GRCh38
NC_000013.10:g.77566311G>A , CM000675.1:g.77566311G>A	GRCh37
NC_000013.9:g.76464312G>A	NCBI36
NG_009064.1:g.5253G>A , LRG_692:g.5253G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.78G>A MANE Select	ENSP00000366673.5:p.Trp26Ter
ENST00000485938.4:c.78G>A	ENSP00000482959.3:p.Trp26Ter
ENST00000616833.6:c.78G>A	ENSP00000479547.3:p.Trp26Ter
ENST00000635905.1:n.79G>A
ENST00000635915.1:c.17G>A
ENST00000635989.1:n.88G>A
ENST00000636183.2:c.78G>A	ENSP00000490181.2:p.Trp26Ter
ENST00000636525.2:c.78G>A	ENSP00000490078.2:p.Trp26Ter
ENST00000636767.2:c.78G>A	ENSP00000489855.2:p.Trp26Ter
ENST00000636780.2:c.78G>A	ENSP00000489809.2:p.Trp26Ter
ENST00000637397.2:c.78G>A	ENSP00000490422.2:p.Trp26Ter
ENST00000637537.2:c.78G>A	ENSP00000489711.2:p.Trp26Ter
ENST00000638147.2:c.78G>A	ENSP00000490953.2:p.Trp26Ter
ENST00000377453.7:c.225G>A	ENSP00000366673.3:p.Trp75Ter
ENST00000485938.2:c.61G>A
ENST00000616833.4:c.78G>A	ENSP00000479547.1:p.Trp26Ter
NM_006493.2:c.225G>A , LRG_692t1:c.225G>A	NP_006484.1:p.Trp75Ter
XM_011534917.1:c.225G>A	XP_011533219.1:p.Trp75Ter
NM_001366624.1:c.78G>A	NP_001353553.1:p.Trp26Ter
NM_006493.3:c.78G>A	NP_006484.2:p.Trp26Ter
NM_001366624.2:c.78G>A	NP_001353553.1:p.Trp26Ter
NM_006493.4:c.78G>A MANE Select	NP_006484.2:p.Trp26Ter