Canonical Allele Identifier: CA388309483

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76996077A>C , CM000675.2:g.76996077A>C GRCh38
NC_000013.10:g.77570212A>C , CM000675.1:g.77570212A>C GRCh37
NC_000013.9:g.76468213A>C NCBI36
NG_009064.1:g.9154A>C , LRG_692:g.9154A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.515A>C (CLN5) MANE Select ENSP00000366673.5:p.Asp172Ala
ENST00000485938.4:c.515A>C (CLN5) ENSP00000482959.3:p.Asp172Ala
ENST00000616833.6:c.515A>C (CLN5) ENSP00000479547.3:p.Asp172Ala
ENST00000635838.1:c.124A>C
ENST00000635905.1:n.516A>C (CLN5)
ENST00000635915.1:c.513A>C (CLN5)
ENST00000635989.1:n.582A>C (CLN5)
ENST00000636183.2:c.515A>C (CLN5) ENSP00000490181.2:p.Asp172Ala
ENST00000636520.1:n.2027A>C (CLN5)
ENST00000636525.2:c.515A>C (CLN5) ENSP00000490078.2:p.Asp172Ala
ENST00000636602.1:n.461A>C (CLN5)
ENST00000636681.1:c.*206A>C (CLN5) ENSP00000489922.1:n.*206A>C
ENST00000636705.1:c.351A>C (CLN5)
ENST00000636767.2:c.515A>C (CLN5) ENSP00000489855.2:p.Asp172Ala
ENST00000636780.2:c.515A>C (CLN5) ENSP00000489809.2:p.Asp172Ala
ENST00000637192.1:c.163A>C
ENST00000637278.1:n.841A>C (CLN5)
ENST00000637397.2:c.515A>C (CLN5) ENSP00000490422.2:p.Asp172Ala
ENST00000637537.2:c.515A>C (CLN5) ENSP00000489711.2:p.Asp172Ala
ENST00000638101.1:c.119A>C ENSP00000490535.1:p.Asp40Ala
ENST00000638147.2:c.515A>C ENSP00000490953.2:p.Asp172Ala
ENST00000377453.7:c.662A>C (CLN5) ENSP00000366673.3:p.Asp221Ala
ENST00000485797.2:n.174-3126T>G (FBXL3)
ENST00000485938.2:c.498A>C (CLN5)
ENST00000616833.4:c.515A>C (CLN5) ENSP00000479547.1:p.Asp172Ala
NM_006493.2:c.662A>C , LRG_692t1:c.662A>C (CLN5) NP_006484.1:p.Asp221Ala
XM_011534917.1:c.662A>C (CLN5) XP_011533219.1:p.Asp221Ala
NM_001366624.1:c.515A>C (CLN5) NP_001353553.1:p.Asp172Ala
NM_006493.3:c.515A>C (CLN5) NP_006484.2:p.Asp172Ala
XM_017020538.2:c.644-3126T>G (FBXL3) XP_016876027.1:n.644-3126T>G
NM_001366624.2:c.515A>C (CLN5) NP_001353553.1:p.Asp172Ala
NM_006493.4:c.515A>C (CLN5) MANE Select NP_006484.2:p.Asp172Ala