Canonical Allele Identifier: CA1757673295
Gene: CLN8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.1780608C= , CM000670.2:g.1780608C= GRCh38
NC_000008.10:g.1728774C= , CM000670.1:g.1728774C= GRCh37
NC_000008.9:g.1716181C= NCBI36
NG_008656.2:g.29831C= , LRG_691:g.29831C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000331222.6:c.*41C= MANE Select ENSP00000328182.4:n.*41C=
ENST00000519254.2:c.*41C= ENSP00000490016.1:n.*41C=
ENST00000520991.3:c.*313C= ENSP00000487905.2:n.*313C=
ENST00000635751.1:c.*41C= ENSP00000489694.1:n.*41C=
ENST00000635773.1:c.496+9011C=
ENST00000635855.1:c.543+9011C= ENSP00000489726.1:n.543+9011C=
ENST00000635970.1:c.*41C= ENSP00000490439.1:n.*41C=
ENST00000636175.1:c.343+9011C=
ENST00000636934.1:c.543+9011C= ENSP00000490218.1:n.543+9011C=
ENST00000637083.1:c.*41C= ENSP00000490235.1:n.*41C=
ENST00000637156.1:c.*41C= ENSP00000490458.1:n.*41C=
ENST00000331222.4:c.*41C= ENSP00000328182.4:n.*41C=
ENST00000519254.1:n.421C=
ENST00000523237.1:n.677C=
NM_018941.3:c.*41C= , LRG_691t1:c.*41C= NP_061764.2:n.*41C=
XM_005266021.3:c.*41C= XP_005266078.1:n.*41C=
XM_005266022.1:c.*41C= XP_005266079.1:n.*41C=
XM_005266023.1:c.*41C= XP_005266080.1:n.*41C=
XM_011534745.1:c.*41C= XP_011533047.1:n.*41C=
XM_011534746.1:c.*41C= XP_011533048.1:n.*41C=
XM_005266021.4:c.*41C= XP_005266078.1:n.*41C=
XM_011534746.2:c.*41C= XP_011533048.1:n.*41C=
NM_018941.4:c.*41C= MANE Select NP_061764.2:n.*41C=