Canonical Allele Identifier: CA388309490

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76996080T>A , CM000675.2:g.76996080T>A GRCh38
NC_000013.10:g.77570215T>A , CM000675.1:g.77570215T>A GRCh37
NC_000013.9:g.76468216T>A NCBI36
NG_009064.1:g.9157T>A , LRG_692:g.9157T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.518T>A (CLN5) MANE Select ENSP00000366673.5:p.Val173Asp
ENST00000485938.4:c.518T>A (CLN5) ENSP00000482959.3:p.Val173Asp
ENST00000616833.6:c.518T>A (CLN5) ENSP00000479547.3:p.Val173Asp
ENST00000635838.1:c.127T>A
ENST00000635905.1:n.519T>A (CLN5)
ENST00000635915.1:c.516T>A (CLN5)
ENST00000635989.1:n.585T>A (CLN5)
ENST00000636183.2:c.518T>A (CLN5) ENSP00000490181.2:p.Val173Asp
ENST00000636520.1:n.2030T>A (CLN5)
ENST00000636525.2:c.518T>A (CLN5) ENSP00000490078.2:p.Val173Asp
ENST00000636602.1:n.464T>A (CLN5)
ENST00000636681.1:c.*209T>A (CLN5) ENSP00000489922.1:n.*209T>A
ENST00000636705.1:c.354T>A (CLN5)
ENST00000636767.2:c.518T>A (CLN5) ENSP00000489855.2:p.Val173Asp
ENST00000636780.2:c.518T>A (CLN5) ENSP00000489809.2:p.Val173Asp
ENST00000637192.1:c.166T>A
ENST00000637278.1:n.844T>A (CLN5)
ENST00000637397.2:c.518T>A (CLN5) ENSP00000490422.2:p.Val173Asp
ENST00000637537.2:c.518T>A (CLN5) ENSP00000489711.2:p.Val173Asp
ENST00000638101.1:c.122T>A ENSP00000490535.1:p.Val41Asp
ENST00000638147.2:c.518T>A ENSP00000490953.2:p.Val173Asp
ENST00000377453.7:c.665T>A (CLN5) ENSP00000366673.3:p.Val222Asp
ENST00000485797.2:n.174-3129A>T (FBXL3)
ENST00000485938.2:c.501T>A (CLN5)
ENST00000616833.4:c.518T>A (CLN5) ENSP00000479547.1:p.Val173Asp
NM_006493.2:c.665T>A , LRG_692t1:c.665T>A (CLN5) NP_006484.1:p.Val222Asp
XM_011534917.1:c.665T>A (CLN5) XP_011533219.1:p.Val222Asp
NM_001366624.1:c.518T>A (CLN5) NP_001353553.1:p.Val173Asp
NM_006493.3:c.518T>A (CLN5) NP_006484.2:p.Val173Asp
XM_017020538.2:c.644-3129A>T (FBXL3) XP_016876027.1:n.644-3129A>T
NM_001366624.2:c.518T>A (CLN5) NP_001353553.1:p.Val173Asp
NM_006493.4:c.518T>A (CLN5) MANE Select NP_006484.2:p.Val173Asp