Canonical Allele Identifier: CA9554048
Gene: RPL18 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48616171C>T , CM000681.2:g.48616171C>T GRCh38
NC_000019.9:g.49119428C>T , CM000681.1:g.49119428C>T GRCh37
NC_000019.8:g.53811240C>T NCBI36
NG_029867.1:g.1881C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000549920.6:c.329G>A MANE Select ENSP00000447001.1:p.Arg110His
ENST00000084795.9:c.333G>A
ENST00000546623.5:c.264G>A
ENST00000547892.1:n.3005G>A
ENST00000547897.5:c.297+555G>A ENSP00000470988.1:n.297+555G>A
ENST00000549273.5:c.329G>A ENSP00000449610.1:p.Arg110His
ENST00000549370.5:c.*66G>A ENSP00000449067.1:n.*66G>A
ENST00000549533.1:n.255G>A
ENST00000549920.5:c.329G>A ENSP00000447001.1:p.Arg110His
ENST00000550645.5:c.298-266G>A ENSP00000448899.1:n.298-266G>A
ENST00000550973.5:c.173G>A ENSP00000447894.1:p.Arg58His
ENST00000551749.5:n.1383G>A
ENST00000552347.5:n.1363G>A
ENST00000552588.5:c.242G>A ENSP00000449204.1:p.Arg81His
ENST00000552705.5:n.892G>A
NM_000979.3:c.329G>A NP_000970.1:p.Arg110His
NM_001270490.1:c.242G>A NP_001257419.1:p.Arg81His
NR_073022.1:n.596G>A
NM_000979.4:c.329G>A MANE Select NP_000970.1:p.Arg110His
NM_001270490.2:c.242G>A NP_001257419.1:p.Arg81His
NR_073022.2:n.356G>A