Canonical Allele Identifier: CA388305771

Gene: CLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76991999G>C , CM000675.2:g.76991999G>C	GRCh38
NC_000013.10:g.77566134G>C , CM000675.1:g.77566134G>C	GRCh37
NC_000013.9:g.76464135G>C	NCBI36
NG_009064.1:g.5076G>C , LRG_692:g.5076G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636183.2:c.-100G>C	ENSP00000490181.2:n.-100G>C
ENST00000377453.7:c.48G>C	ENSP00000366673.3:p.Gln16His
NM_006493.2:c.48G>C , LRG_692t1:c.48G>C	NP_006484.1:p.Gln16His
XM_011534917.1:c.48G>C	XP_011533219.1:p.Gln16His