Canonical Allele Identifier: CA7007277

Linked Data

dbSNP Id: rs202171514

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77000847A>C , CM000675.2:g.77000847A>C GRCh38
NC_000013.10:g.77574982A>C , CM000675.1:g.77574982A>C GRCh37
NC_000013.9:g.76472983A>C NCBI36
NG_009064.1:g.13924A>C , LRG_692:g.13924A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.955A>C (CLN5) MANE Select ENSP00000366673.5:p.Lys319Gln
ENST00000616833.6:c.*397A>C (CLN5) ENSP00000479547.3:n.*397A>C
ENST00000635838.1:c.174+4720A>C
ENST00000635905.1:n.566+4720A>C (CLN5)
ENST00000635915.1:c.953A>C (CLN5)
ENST00000636183.2:c.955A>C (CLN5) ENSP00000490181.2:p.Lys319Gln
ENST00000636525.2:c.565+4720A>C (CLN5) ENSP00000490078.2:n.565+4720A>C
ENST00000636681.1:c.*646A>C (CLN5) ENSP00000489922.1:n.*646A>C
ENST00000636705.1:c.791A>C (CLN5)
ENST00000636767.2:c.565+4720A>C (CLN5) ENSP00000489855.2:n.565+4720A>C
ENST00000636780.2:c.*404A>C (CLN5) ENSP00000489809.2:n.*404A>C
ENST00000637192.1:c.213+4720A>C
ENST00000637278.1:n.1281A>C (CLN5)
ENST00000637397.2:c.565+4720A>C (CLN5) ENSP00000490422.2:n.565+4720A>C
ENST00000638101.1:c.169+4720A>C ENSP00000490535.1:n.169+4720A>C
ENST00000638147.2:c.565+4720A>C ENSP00000490953.2:n.565+4720A>C
ENST00000377453.7:c.1102A>C (CLN5) ENSP00000366673.3:p.Lys368Gln
ENST00000477982.2:n.1462T>G (FBXL3)
ENST00000485797.2:n.174-7896T>G (FBXL3)
ENST00000616833.4:c.955A>C (CLN5) ENSP00000479547.1:p.Lys319Gln
NM_006493.2:c.1102A>C , LRG_692t1:c.1102A>C (CLN5) NP_006484.1:p.Lys368Gln
NM_001366624.1:c.*404A>C (CLN5) NP_001353553.1:n.*404A>C
NM_006493.3:c.955A>C (CLN5) NP_006484.2:p.Lys319Gln
XM_017020538.2:c.644-7896T>G (FBXL3) XP_016876027.1:n.644-7896T>G
NM_001366624.2:c.*404A>C (CLN5) NP_001353553.1:n.*404A>C
NM_006493.4:c.955A>C (CLN5) MANE Select NP_006484.2:p.Lys319Gln