Canonical Allele Identifier: CA1757673317
Gene: CLN8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.1780647T= , CM000670.2:g.1780647T= GRCh38
NC_000008.10:g.1728813T= , CM000670.1:g.1728813T= GRCh37
NC_000008.9:g.1716220T= NCBI36
NG_008656.2:g.29870T= , LRG_691:g.29870T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000331222.6:c.*80T= MANE Select ENSP00000328182.4:n.*80T=
ENST00000519254.2:c.*80T= ENSP00000490016.1:n.*80T=
ENST00000520991.3:c.*352T= ENSP00000487905.2:n.*352T=
ENST00000635751.1:c.*80T= ENSP00000489694.1:n.*80T=
ENST00000635773.1:c.496+9050T=
ENST00000635855.1:c.543+9050T= ENSP00000489726.1:n.543+9050T=
ENST00000635970.1:c.*80T= ENSP00000490439.1:n.*80T=
ENST00000636175.1:c.343+9050T=
ENST00000636934.1:c.543+9050T= ENSP00000490218.1:n.543+9050T=
ENST00000637083.1:c.*80T= ENSP00000490235.1:n.*80T=
ENST00000637156.1:c.*80T= ENSP00000490458.1:n.*80T=
ENST00000331222.4:c.*80T= ENSP00000328182.4:n.*80T=
ENST00000519254.1:n.460T=
ENST00000523237.1:n.716T=
NM_018941.3:c.*80T= , LRG_691t1:c.*80T= NP_061764.2:n.*80T=
XM_005266021.3:c.*80T= XP_005266078.1:n.*80T=
XM_005266022.1:c.*80T= XP_005266079.1:n.*80T=
XM_005266023.1:c.*80T= XP_005266080.1:n.*80T=
XM_011534745.1:c.*80T= XP_011533047.1:n.*80T=
XM_011534746.1:c.*80T= XP_011533048.1:n.*80T=
XM_005266021.4:c.*80T= XP_005266078.1:n.*80T=
XM_011534746.2:c.*80T= XP_011533048.1:n.*80T=
NM_018941.4:c.*80T= MANE Select NP_061764.2:n.*80T=