Canonical Allele Identifier: CA388305609

Gene: CLN5

Linked Data

• dbSNP Id: rs762873839
• gnomAD v4: 13-76991973-G-A
• MyVariant Identifiers: chr13:g.77566108G>A (hg19) ; chr13:g.76991973G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76991973G>A , CM000675.2:g.76991973G>A	GRCh38
NC_000013.10:g.77566108G>A , CM000675.1:g.77566108G>A	GRCh37
NC_000013.9:g.76464109G>A	NCBI36
NG_009064.1:g.5050G>A , LRG_692:g.5050G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-126G>A	ENSP00000490181.2:n.-126G>A
ENST00000377453.7:c.22G>A	ENSP00000366673.3:p.Gly8Arg
NM_006493.2:c.22G>A , LRG_692t1:c.22G>A	NP_006484.1:p.Gly8Arg
XM_011534917.1:c.22G>A	XP_011533219.1:p.Gly8Arg