Canonical Allele Identifier: CA1757684022
Gene: CLN8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.1798784A= , CM000670.2:g.1798784A= GRCh38
NC_000008.10:g.1746950A= , CM000670.1:g.1746950A= GRCh37
NC_000008.9:g.1734357A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000635773.1:c.496+27187A=
ENST00000635855.1:c.543+27187A= ENSP00000489726.1:n.543+27187A=
ENST00000636175.1:c.343+27187A=
ENST00000636934.1:c.544-1890A= ENSP00000490218.1:n.544-1890A=