Canonical Allele Identifier: CA388305871

Gene: CLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76992021G>C , CM000675.2:g.76992021G>C	GRCh38
NC_000013.10:g.77566156G>C , CM000675.1:g.77566156G>C	GRCh37
NC_000013.9:g.76464157G>C	NCBI36
NG_009064.1:g.5098G>C , LRG_692:g.5098G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006493.2:c.70G>C , LRG_692t1:c.70G>C	NP_006484.1:p.Gly24Arg
ENST00000377453.7:c.70G>C	ENSP00000366673.3:p.Gly24Arg
ENST00000636183.2:c.-78G>C	ENSP00000490181.2:n.-78G>C
XM_011534917.1:c.70G>C	XP_011533219.1:p.Gly24Arg