Canonical Allele Identifier: CA388306053

Gene: CLN5

Linked Data

• ClinVar Variation Id: 1432934
• ClinVar RCV Id: RCV001944163
• dbSNP Id: rs1223625391
• MyVariant Identifiers: chr13:g.77566201T>G (hg19) ; chr13:g.76992066T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76992066T>G , CM000675.2:g.76992066T>G	GRCh38
NC_000013.10:g.77566201T>G , CM000675.1:g.77566201T>G	GRCh37
NC_000013.9:g.76464202T>G	NCBI36
NG_009064.1:g.5143T>G , LRG_692:g.5143T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485938.4:c.-33T>G	ENSP00000482959.3:n.-33T>G
ENST00000636183.2:c.-33T>G	ENSP00000490181.2:n.-33T>G
ENST00000636780.2:c.-33T>G	ENSP00000489809.2:n.-33T>G
ENST00000377453.7:c.115T>G	ENSP00000366673.3:p.Ser39Ala
NM_006493.2:c.115T>G , LRG_692t1:c.115T>G	NP_006484.1:p.Ser39Ala
XM_011534917.1:c.115T>G	XP_011533219.1:p.Ser39Ala