Canonical Allele Identifier: CA2623298448

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76995773C>A , CM000675.2:g.76995773C>A GRCh38
NC_000013.10:g.77569908C>A , CM000675.1:g.77569908C>A GRCh37
NC_000013.9:g.76467909C>A NCBI36
NG_009064.1:g.8850C>A , LRG_692:g.8850C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.340-129C>A (CLN5) MANE Select ENSP00000366673.5:n.340-129C>A
ENST00000485938.4:c.340-129C>A (CLN5) ENSP00000482959.3:n.340-129C>A
ENST00000616833.6:c.340-129C>A (CLN5) ENSP00000479547.3:n.340-129C>A
ENST00000635905.1:n.341-129C>A (CLN5)
ENST00000635915.1:c.279-70C>A (CLN5)
ENST00000635989.1:n.407-129C>A (CLN5)
ENST00000636183.2:c.340-129C>A (CLN5) ENSP00000490181.2:n.340-129C>A
ENST00000636520.1:n.1723C>A (CLN5)
ENST00000636525.2:c.340-129C>A (CLN5) ENSP00000490078.2:n.340-129C>A
ENST00000636602.1:n.286-129C>A (CLN5)
ENST00000636681.1:c.*31-129C>A (CLN5) ENSP00000489922.1:n.*31-129C>A
ENST00000636705.1:c.176-129C>A (CLN5)
ENST00000636767.2:c.340-129C>A (CLN5) ENSP00000489855.2:n.340-129C>A
ENST00000636780.2:c.340-129C>A (CLN5) ENSP00000489809.2:n.340-129C>A
ENST00000637278.1:n.537C>A (CLN5)
ENST00000637397.2:c.340-129C>A (CLN5) ENSP00000490422.2:n.340-129C>A
ENST00000637537.2:c.340-129C>A (CLN5) ENSP00000489711.2:n.340-129C>A
ENST00000638147.2:c.340-129C>A ENSP00000490953.2:n.340-129C>A
ENST00000377453.7:c.487-129C>A (CLN5) ENSP00000366673.3:n.487-129C>A
ENST00000485797.2:n.174-2822G>T (FBXL3)
ENST00000485938.2:c.323-129C>A (CLN5)
ENST00000616833.4:c.340-129C>A (CLN5) ENSP00000479547.1:n.340-129C>A
NM_006493.2:c.487-129C>A , LRG_692t1:c.487-129C>A (CLN5) NP_006484.1:n.487-129C>A
XM_011534917.1:c.487-129C>A (CLN5) XP_011533219.1:n.487-129C>A
NM_001366624.1:c.340-129C>A (CLN5) NP_001353553.1:n.340-129C>A
NM_006493.3:c.340-129C>A (CLN5) NP_006484.2:n.340-129C>A
XM_017020538.2:c.644-2822G>T (FBXL3) XP_016876027.1:n.644-2822G>T
NM_001366624.2:c.340-129C>A (CLN5) NP_001353553.1:n.340-129C>A
NM_006493.4:c.340-129C>A (CLN5) MANE Select NP_006484.2:n.340-129C>A