Canonical Allele Identifier: CA2103418550
Community Standard Title: NM_006493.4(CLN5):c.78G= (p.Trp26=)
Gene: CLN5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76992176G= , CM000675.2:g.76992176G= GRCh38
NC_000013.10:g.77566311G= , CM000675.1:g.77566311G= GRCh37
NC_000013.9:g.76464312G= NCBI36
NG_009064.1:g.5253G= , LRG_692:g.5253G=

Transcript Alleles

HGVS Amino-acid Change
NM_006493.4:c.78G= MANE Select NP_006484.2:p.Trp26=
ENST00000377453.9:c.78G= MANE Select ENSP00000366673.5:p.Trp26=
NM_001366624.1:c.78G= NP_001353553.1:p.Trp26=
NM_001366624.2:c.78G= NP_001353553.1:p.Trp26=
NM_006493.2:c.225G= , LRG_692t1:c.225G= NP_006484.1:p.Trp75=
NM_006493.3:c.78G= NP_006484.2:p.Trp26=
ENST00000377453.7:c.225G= ENSP00000366673.3:p.Trp75=
ENST00000485938.2:c.61G=
ENST00000485938.4:c.78G= ENSP00000482959.3:p.Trp26=
ENST00000616833.4:c.78G= ENSP00000479547.1:p.Trp26=
ENST00000616833.6:c.78G= ENSP00000479547.3:p.Trp26=
ENST00000635905.1:n.79G=
ENST00000635915.1:c.17G=
ENST00000635989.1:n.88G=
ENST00000636183.2:c.78G= ENSP00000490181.2:p.Trp26=
ENST00000636525.2:c.78G= ENSP00000490078.2:p.Trp26=
ENST00000636767.2:c.78G= ENSP00000489855.2:p.Trp26=
ENST00000636780.2:c.78G= ENSP00000489809.2:p.Trp26=
ENST00000637397.2:c.78G= ENSP00000490422.2:p.Trp26=
ENST00000637537.2:c.78G= ENSP00000489711.2:p.Trp26=
ENST00000638147.2:c.78G= ENSP00000490953.2:p.Trp26=
XM_011534917.1:c.225G= XP_011533219.1:p.Trp75=