Canonical Allele Identifier: CA5590443
Gene: RNLS HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88362674C>T , CM000672.2:g.88362674C>T GRCh38
NC_000010.10:g.90122431C>T , CM000672.1:g.90122431C>T GRCh37
NC_000010.9:g.90112411C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000331772.9:c.578G>A MANE Select ENSP00000332530.4:p.Arg193Gln
ENST00000331772.8:c.578G>A ENSP00000332530.4:p.Arg193Gln
ENST00000371947.7:c.578G>A ENSP00000361015.3:p.Arg193Gln
ENST00000466945.5:n.561G>A
ENST00000481793.1:n.469G>A
NM_001031709.2:c.578G>A NP_001026879.2:p.Arg193Gln
NM_018363.3:c.578G>A NP_060833.1:p.Arg193Gln
XM_005269946.1:c.578G>A XP_005270003.1:p.Arg193Gln
XM_005269947.1:c.578G>A XP_005270004.1:p.Arg193Gln
XM_005269948.1:c.329G>A XP_005270005.1:p.Arg110Gln
XM_005269949.3:c.578G>A XP_005270006.1:p.Arg193Gln
XM_005269950.2:c.329G>A XP_005270007.1:p.Arg110Gln
XM_011539924.1:c.578G>A XP_011538226.1:p.Arg193Gln
XM_011539925.1:c.578G>A XP_011538227.1:p.Arg193Gln
XM_011539926.1:c.578G>A XP_011538228.1:p.Arg193Gln
XM_011539927.1:c.578G>A XP_011538229.1:p.Arg193Gln
XR_946176.1:n.315-7405C>T
XM_005269946.2:c.578G>A XP_005270003.1:p.Arg193Gln
XM_005269947.2:c.578G>A XP_005270004.1:p.Arg193Gln
XM_005269948.3:c.329G>A XP_005270005.1:p.Arg110Gln
XM_005269949.5:c.578G>A XP_005270006.1:p.Arg193Gln
XM_005269950.4:c.329G>A XP_005270007.1:p.Arg110Gln
XM_011539924.3:c.578G>A XP_011538226.1:p.Arg193Gln
XM_011539927.3:c.578G>A XP_011538229.1:p.Arg193Gln
XM_017016380.2:c.578G>A XP_016871869.1:p.Arg193Gln
XM_017016381.2:c.578G>A XP_016871870.1:p.Arg193Gln
XM_017016382.2:c.329G>A XP_016871871.1:p.Arg110Gln
XM_017016384.2:c.329G>A XP_016871873.1:p.Arg110Gln
XM_017016385.1:c.92G>A XP_016871874.1:p.Arg31Gln
XM_024448063.1:c.329G>A XP_024303831.1:p.Arg110Gln
XR_001747122.2:n.1868G>A
XR_001747537.2:n.657-7405C>T
NM_001031709.3:c.578G>A MANE Select NP_001026879.2:p.Arg193Gln
NM_018363.4:c.578G>A NP_060833.1:p.Arg193Gln