Canonical Allele Identifier: CA313861

Gene: CLN5

Linked Data

• ClinVar Variation Id: 205125
• ClinVar RCV Id: RCV000395302 ; RCV000726511 ; RCV001727624 ; RCV001082301 ; RCV001111458 ; RCV002317080
• dbSNP Id: rs146993892
• ExAC: 13:77566238 C / T
• gnomAD v2: 13-77566238-C-T
• gnomAD v3: 13-76992103-C-T
• gnomAD v4: 13-76992103-C-T
• MyVariant Identifiers: chr13:g.77566238C>T (hg19) ; chr13:g.76992103C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76992103C>T , CM000675.2:g.76992103C>T	GRCh38
NC_000013.10:g.77566238C>T , CM000675.1:g.77566238C>T	GRCh37
NC_000013.9:g.76464239C>T	NCBI36
NG_009064.1:g.5180C>T , LRG_692:g.5180C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.5C>T MANE Select	ENSP00000366673.5:p.Ala2Val
ENST00000485938.4:c.5C>T	ENSP00000482959.3:p.Ala2Val
ENST00000616833.6:c.5C>T	ENSP00000479547.3:p.Ala2Val
ENST00000635905.1:n.6C>T
ENST00000635989.1:n.15C>T
ENST00000636183.2:c.5C>T	ENSP00000490181.2:p.Ala2Val
ENST00000636525.2:c.5C>T	ENSP00000490078.2:p.Ala2Val
ENST00000636767.2:c.5C>T	ENSP00000489855.2:p.Ala2Val
ENST00000636780.2:c.5C>T	ENSP00000489809.2:p.Ala2Val
ENST00000637397.2:c.5C>T	ENSP00000490422.2:p.Ala2Val
ENST00000637537.2:c.5C>T	ENSP00000489711.2:p.Ala2Val
ENST00000638147.2:c.5C>T	ENSP00000490953.2:p.Ala2Val
ENST00000377453.7:c.152C>T	ENSP00000366673.3:p.Ala51Val
ENST00000616833.4:c.5C>T	ENSP00000479547.1:p.Ala2Val
NM_006493.2:c.152C>T , LRG_692t1:c.152C>T	NP_006484.1:p.Ala51Val
XM_011534917.1:c.152C>T	XP_011533219.1:p.Ala51Val
NM_001366624.1:c.5C>T	NP_001353553.1:p.Ala2Val
NM_006493.3:c.5C>T	NP_006484.2:p.Ala2Val
NM_001366624.2:c.5C>T	NP_001353553.1:p.Ala2Val
NM_006493.4:c.5C>T MANE Select	NP_006484.2:p.Ala2Val