Canonical Allele Identifier: CA2623298445

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76995771A>C , CM000675.2:g.76995771A>C GRCh38
NC_000013.10:g.77569906A>C , CM000675.1:g.77569906A>C GRCh37
NC_000013.9:g.76467907A>C NCBI36
NG_009064.1:g.8848A>C , LRG_692:g.8848A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.340-131A>C (CLN5) MANE Select ENSP00000366673.5:n.340-131A>C
ENST00000485938.4:c.340-131A>C (CLN5) ENSP00000482959.3:n.340-131A>C
ENST00000616833.6:c.340-131A>C (CLN5) ENSP00000479547.3:n.340-131A>C
ENST00000635905.1:n.341-131A>C (CLN5)
ENST00000635915.1:c.279-72A>C (CLN5)
ENST00000635989.1:n.407-131A>C (CLN5)
ENST00000636183.2:c.340-131A>C (CLN5) ENSP00000490181.2:n.340-131A>C
ENST00000636520.1:n.1721A>C (CLN5)
ENST00000636525.2:c.340-131A>C (CLN5) ENSP00000490078.2:n.340-131A>C
ENST00000636602.1:n.286-131A>C (CLN5)
ENST00000636681.1:c.*31-131A>C (CLN5) ENSP00000489922.1:n.*31-131A>C
ENST00000636705.1:c.176-131A>C (CLN5)
ENST00000636767.2:c.340-131A>C (CLN5) ENSP00000489855.2:n.340-131A>C
ENST00000636780.2:c.340-131A>C (CLN5) ENSP00000489809.2:n.340-131A>C
ENST00000637278.1:n.535A>C (CLN5)
ENST00000637397.2:c.340-131A>C (CLN5) ENSP00000490422.2:n.340-131A>C
ENST00000637537.2:c.340-131A>C (CLN5) ENSP00000489711.2:n.340-131A>C
ENST00000638147.2:c.340-131A>C ENSP00000490953.2:n.340-131A>C
ENST00000377453.7:c.487-131A>C (CLN5) ENSP00000366673.3:n.487-131A>C
ENST00000485797.2:n.174-2820T>G (FBXL3)
ENST00000485938.2:c.323-131A>C (CLN5)
ENST00000616833.4:c.340-131A>C (CLN5) ENSP00000479547.1:n.340-131A>C
NM_006493.2:c.487-131A>C , LRG_692t1:c.487-131A>C (CLN5) NP_006484.1:n.487-131A>C
XM_011534917.1:c.487-131A>C (CLN5) XP_011533219.1:n.487-131A>C
NM_001366624.1:c.340-131A>C (CLN5) NP_001353553.1:n.340-131A>C
NM_006493.3:c.340-131A>C (CLN5) NP_006484.2:n.340-131A>C
XM_017020538.2:c.644-2820T>G (FBXL3) XP_016876027.1:n.644-2820T>G
NM_001366624.2:c.340-131A>C (CLN5) NP_001353553.1:n.340-131A>C
NM_006493.4:c.340-131A>C (CLN5) MANE Select NP_006484.2:n.340-131A>C