Canonical Allele Identifier: CA388306195

Gene: CLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76992101G>C , CM000675.2:g.76992101G>C	GRCh38
NC_000013.10:g.77566236G>C , CM000675.1:g.77566236G>C	GRCh37
NC_000013.9:g.76464237G>C	NCBI36
NG_009064.1:g.5178G>C , LRG_692:g.5178G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.3G>C MANE Select	ENSP00000366673.5:p.Met1Ile
ENST00000485938.4:c.3G>C	ENSP00000482959.3:p.Met1Ile
ENST00000616833.6:c.3G>C	ENSP00000479547.3:p.Met1Ile
ENST00000635905.1:n.4G>C
ENST00000635989.1:n.13G>C
ENST00000636183.2:c.3G>C	ENSP00000490181.2:p.Met1Ile
ENST00000636525.2:c.3G>C	ENSP00000490078.2:p.Met1Ile
ENST00000636767.2:c.3G>C	ENSP00000489855.2:p.Met1Ile
ENST00000636780.2:c.3G>C	ENSP00000489809.2:p.Met1Ile
ENST00000637397.2:c.3G>C	ENSP00000490422.2:p.Met1Ile
ENST00000637537.2:c.3G>C	ENSP00000489711.2:p.Met1Ile
ENST00000638147.2:c.3G>C	ENSP00000490953.2:p.Met1Ile
ENST00000377453.7:c.150G>C	ENSP00000366673.3:p.Met50Ile
ENST00000616833.4:c.3G>C	ENSP00000479547.1:p.Met1Ile
NM_006493.2:c.150G>C , LRG_692t1:c.150G>C	NP_006484.1:p.Met50Ile
XM_011534917.1:c.150G>C	XP_011533219.1:p.Met50Ile
NM_001366624.1:c.3G>C	NP_001353553.1:p.Met1Ile
NM_006493.3:c.3G>C	NP_006484.2:p.Met1Ile
NM_001366624.2:c.3G>C	NP_001353553.1:p.Met1Ile
NM_006493.4:c.3G>C MANE Select	NP_006484.2:p.Met1Ile