Canonical Allele Identifier: CA252339

Linked Data

ClinVar Variation Id: 2570
dbSNP Id: rs148862100

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77000866A>G , CM000675.2:g.77000866A>G GRCh38
NC_000013.10:g.77575001A>G , CM000675.1:g.77575001A>G GRCh37
NC_000013.9:g.76473002A>G NCBI36
NG_009064.1:g.13943A>G , LRG_692:g.13943A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000377453.9:c.974A>G (CLN5) MANE Select ENSP00000366673.5:p.Tyr325Cys
ENST00000616833.6:c.*416A>G (CLN5) ENSP00000479547.3:n.*416A>G
ENST00000635838.1:c.174+4739A>G
ENST00000635905.1:n.566+4739A>G (CLN5)
ENST00000635915.1:c.972A>G (CLN5)
ENST00000636183.2:c.974A>G (CLN5) ENSP00000490181.2:p.Tyr325Cys
ENST00000636525.2:c.565+4739A>G (CLN5) ENSP00000490078.2:n.565+4739A>G
ENST00000636681.1:c.*665A>G (CLN5) ENSP00000489922.1:n.*665A>G
ENST00000636705.1:c.810A>G (CLN5)
ENST00000636767.2:c.565+4739A>G (CLN5) ENSP00000489855.2:n.565+4739A>G
ENST00000636780.2:c.*423A>G (CLN5) ENSP00000489809.2:n.*423A>G
ENST00000637192.1:c.213+4739A>G
ENST00000637278.1:n.1300A>G (CLN5)
ENST00000637397.2:c.565+4739A>G (CLN5) ENSP00000490422.2:n.565+4739A>G
ENST00000638101.1:c.169+4739A>G ENSP00000490535.1:n.169+4739A>G
ENST00000638147.2:c.565+4739A>G ENSP00000490953.2:n.565+4739A>G
ENST00000377453.7:c.1121A>G (CLN5) ENSP00000366673.3:p.Tyr374Cys
ENST00000477982.2:n.1443T>C (FBXL3)
ENST00000485797.2:n.174-7915T>C (FBXL3)
ENST00000616833.4:c.974A>G (CLN5) ENSP00000479547.1:p.Tyr325Cys
NM_006493.2:c.1121A>G , LRG_692t1:c.1121A>G (CLN5) NP_006484.1:p.Tyr374Cys
NM_001366624.1:c.*423A>G (CLN5) NP_001353553.1:n.*423A>G
NM_006493.3:c.974A>G (CLN5) NP_006484.2:p.Tyr325Cys
XM_017020538.2:c.644-7915T>C (FBXL3) XP_016876027.1:n.644-7915T>C
NM_001366624.2:c.*423A>G (CLN5) NP_001353553.1:n.*423A>G
NM_006493.4:c.974A>G (CLN5) MANE Select NP_006484.2:p.Tyr325Cys