Canonical Allele Identifier: CA290137

Gene: CLN5

Linked Data

• ClinVar Variation Id: 136793
• ClinVar RCV Id: RCV000124330 ; RCV001111457 ; RCV000360042 ; RCV000711258 ; RCV001081887 ; RCV002316354
• dbSNP Id: rs587780896
• ExAC: 13:77566230 C / T
• gnomAD v2: 13-77566230-C-T
• gnomAD v3: 13-76992095-C-T
• gnomAD v4: 13-76992095-C-T
• MyVariant Identifiers: chr13:g.77566230C>T (hg19) ; chr13:g.76992095C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76992095C>T , CM000675.2:g.76992095C>T	GRCh38
NC_000013.10:g.77566230C>T , CM000675.1:g.77566230C>T	GRCh37
NC_000013.9:g.76464231C>T	NCBI36
NG_009064.1:g.5172C>T , LRG_692:g.5172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.-4C>T MANE Select	ENSP00000366673.5:n.-4C>T
ENST00000485938.4:c.-4C>T	ENSP00000482959.3:n.-4C>T
ENST00000616833.6:c.-4C>T	ENSP00000479547.3:n.-4C>T
ENST00000635989.1:n.7C>T
ENST00000636183.2:c.-4C>T	ENSP00000490181.2:n.-4C>T
ENST00000636780.2:c.-4C>T	ENSP00000489809.2:n.-4C>T
ENST00000637397.2:c.-4C>T	ENSP00000490422.2:n.-4C>T
ENST00000637537.2:c.-4C>T	ENSP00000489711.2:n.-4C>T
ENST00000638147.2:c.-4C>T	ENSP00000490953.2:n.-4C>T
ENST00000377453.7:c.144C>T	ENSP00000366673.3:p.Ser48=
ENST00000616833.4:c.-4C>T	ENSP00000479547.1:n.-4C>T
NM_006493.2:c.144C>T , LRG_692t1:c.144C>T	NP_006484.1:p.Ser48=
XM_011534917.1:c.144C>T	XP_011533219.1:p.Ser48=
NM_001366624.1:c.-4C>T	NP_001353553.1:n.-4C>T
NM_006493.3:c.-4C>T	NP_006484.2:n.-4C>T
NM_001366624.2:c.-4C>T	NP_001353553.1:n.-4C>T
NM_006493.4:c.-4C>T MANE Select	NP_006484.2:n.-4C>T