Canonical Allele Identifier: CA388312089

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77000580G>T , CM000675.2:g.77000580G>T GRCh38
NC_000013.10:g.77574715G>T , CM000675.1:g.77574715G>T GRCh37
NC_000013.9:g.76472716G>T NCBI36
NG_009064.1:g.13657G>T , LRG_692:g.13657G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.688G>T (CLN5) MANE Select ENSP00000366673.5:p.Asp230Tyr
ENST00000616833.6:c.*130G>T (CLN5) ENSP00000479547.3:n.*130G>T
ENST00000635838.1:c.174+4453G>T
ENST00000635905.1:n.566+4453G>T (CLN5)
ENST00000635915.1:c.686G>T (CLN5)
ENST00000636183.2:c.688G>T (CLN5) ENSP00000490181.2:p.Asp230Tyr
ENST00000636525.2:c.565+4453G>T (CLN5) ENSP00000490078.2:n.565+4453G>T
ENST00000636681.1:c.*379G>T (CLN5) ENSP00000489922.1:n.*379G>T
ENST00000636705.1:c.524G>T (CLN5)
ENST00000636767.2:c.565+4453G>T (CLN5) ENSP00000489855.2:n.565+4453G>T
ENST00000636780.2:c.*137G>T (CLN5) ENSP00000489809.2:n.*137G>T
ENST00000637192.1:c.213+4453G>T
ENST00000637278.1:n.1014G>T (CLN5)
ENST00000637397.2:c.565+4453G>T (CLN5) ENSP00000490422.2:n.565+4453G>T
ENST00000638101.1:c.169+4453G>T ENSP00000490535.1:n.169+4453G>T
ENST00000638147.2:c.565+4453G>T ENSP00000490953.2:n.565+4453G>T
ENST00000377453.7:c.835G>T (CLN5) ENSP00000366673.3:p.Asp279Tyr
ENST00000477982.2:n.1729C>A (FBXL3)
ENST00000485797.2:n.174-7629C>A (FBXL3)
ENST00000616833.4:c.688G>T (CLN5) ENSP00000479547.1:p.Asp230Tyr
NM_006493.2:c.835G>T , LRG_692t1:c.835G>T (CLN5) NP_006484.1:p.Asp279Tyr
XM_011534917.1:c.*137G>T (CLN5) XP_011533219.1:n.*137G>T
NM_001366624.1:c.*137G>T (CLN5) NP_001353553.1:n.*137G>T
NM_006493.3:c.688G>T (CLN5) NP_006484.2:p.Asp230Tyr
XM_017020538.2:c.644-7629C>A (FBXL3) XP_016876027.1:n.644-7629C>A
NM_001366624.2:c.*137G>T (CLN5) NP_001353553.1:n.*137G>T
NM_006493.4:c.688G>T (CLN5) MANE Select NP_006484.2:p.Asp230Tyr