Canonical Allele Identifier: CA252176530

Linked Data

dbSNP Id: rs138626269

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76995924G>C , CM000675.2:g.76995924G>C GRCh38
NC_000013.10:g.77570059G>C , CM000675.1:g.77570059G>C GRCh37
NC_000013.9:g.76468060G>C NCBI36
NG_009064.1:g.9001G>C , LRG_692:g.9001G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.362G>C (CLN5) MANE Select ENSP00000366673.5:p.Gly121Ala
ENST00000485938.4:c.362G>C (CLN5) ENSP00000482959.3:p.Gly121Ala
ENST00000616833.6:c.362G>C (CLN5) ENSP00000479547.3:p.Gly121Ala
ENST00000635905.1:n.363G>C (CLN5)
ENST00000635915.1:c.360G>C (CLN5)
ENST00000635989.1:n.429G>C (CLN5)
ENST00000636183.2:c.362G>C (CLN5) ENSP00000490181.2:p.Gly121Ala
ENST00000636520.1:n.1874G>C (CLN5)
ENST00000636525.2:c.362G>C (CLN5) ENSP00000490078.2:p.Gly121Ala
ENST00000636602.1:n.308G>C (CLN5)
ENST00000636681.1:c.*53G>C (CLN5) ENSP00000489922.1:n.*53G>C
ENST00000636705.1:c.198G>C (CLN5)
ENST00000636767.2:c.362G>C (CLN5) ENSP00000489855.2:p.Gly121Ala
ENST00000636780.2:c.362G>C (CLN5) ENSP00000489809.2:p.Gly121Ala
ENST00000637192.1:c.10G>C
ENST00000637278.1:n.688G>C (CLN5)
ENST00000637397.2:c.362G>C (CLN5) ENSP00000490422.2:p.Gly121Ala
ENST00000637537.2:c.362G>C (CLN5) ENSP00000489711.2:p.Gly121Ala
ENST00000638147.2:c.362G>C ENSP00000490953.2:p.Gly121Ala
ENST00000377453.7:c.509G>C (CLN5) ENSP00000366673.3:p.Gly170Ala
ENST00000485797.2:n.174-2973C>G (FBXL3)
ENST00000485938.2:c.345G>C (CLN5)
ENST00000616833.4:c.362G>C (CLN5) ENSP00000479547.1:p.Gly121Ala
NM_006493.2:c.509G>C , LRG_692t1:c.509G>C (CLN5) NP_006484.1:p.Gly170Ala
XM_011534917.1:c.509G>C (CLN5) XP_011533219.1:p.Gly170Ala
NM_001366624.1:c.362G>C (CLN5) NP_001353553.1:p.Gly121Ala
NM_006493.3:c.362G>C (CLN5) NP_006484.2:p.Gly121Ala
XM_017020538.2:c.644-2973C>G (FBXL3) XP_016876027.1:n.644-2973C>G
NM_001366624.2:c.362G>C (CLN5) NP_001353553.1:p.Gly121Ala
NM_006493.4:c.362G>C (CLN5) MANE Select NP_006484.2:p.Gly121Ala