Canonical Allele Identifier: CA313867

Gene: CLN5

Linked Data

• ClinVar Variation Id: 205127
• ClinVar RCV Id: RCV000187050 ; RCV000711259 ; RCV000755716 ; RCV000989148 ; RCV002314701 ; RCV003977493
• dbSNP Id: rs199727787
• ExAC: 13:77566309 T / C
• gnomAD v2: 13-77566309-T-C
• gnomAD v3: 13-76992174-T-C
• gnomAD v4: 13-76992174-T-C
• MyVariant Identifiers: chr13:g.77566309T>C (hg19) ; chr13:g.76992174T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76992174T>C , CM000675.2:g.76992174T>C	GRCh38
NC_000013.10:g.77566309T>C , CM000675.1:g.77566309T>C	GRCh37
NC_000013.9:g.76464310T>C	NCBI36
NG_009064.1:g.5251T>C , LRG_692:g.5251T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.76T>C MANE Select	ENSP00000366673.5:p.Trp26Arg
ENST00000485938.4:c.76T>C	ENSP00000482959.3:p.Trp26Arg
ENST00000616833.6:c.76T>C	ENSP00000479547.3:p.Trp26Arg
ENST00000635905.1:n.77T>C
ENST00000635915.1:c.15T>C
ENST00000635989.1:n.86T>C
ENST00000636183.2:c.76T>C	ENSP00000490181.2:p.Trp26Arg
ENST00000636525.2:c.76T>C	ENSP00000490078.2:p.Trp26Arg
ENST00000636767.2:c.76T>C	ENSP00000489855.2:p.Trp26Arg
ENST00000636780.2:c.76T>C	ENSP00000489809.2:p.Trp26Arg
ENST00000637397.2:c.76T>C	ENSP00000490422.2:p.Trp26Arg
ENST00000637537.2:c.76T>C	ENSP00000489711.2:p.Trp26Arg
ENST00000638147.2:c.76T>C	ENSP00000490953.2:p.Trp26Arg
ENST00000377453.7:c.223T>C	ENSP00000366673.3:p.Trp75Arg
ENST00000485938.2:c.59T>C
ENST00000616833.4:c.76T>C	ENSP00000479547.1:p.Trp26Arg
NM_006493.2:c.223T>C , LRG_692t1:c.223T>C	NP_006484.1:p.Trp75Arg
XM_011534917.1:c.223T>C	XP_011533219.1:p.Trp75Arg
NM_001366624.1:c.76T>C	NP_001353553.1:p.Trp26Arg
NM_006493.3:c.76T>C	NP_006484.2:p.Trp26Arg
NM_001366624.2:c.76T>C	NP_001353553.1:p.Trp26Arg
NM_006493.4:c.76T>C MANE Select	NP_006484.2:p.Trp26Arg