Canonical Allele Identifier: CA5590566
Gene: RNLS HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88582217G>A , CM000672.2:g.88582217G>A GRCh38
NC_000010.10:g.90341974G>A , CM000672.1:g.90341974G>A GRCh37
NC_000010.9:g.90331954G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000331772.9:c.209C>T MANE Select ENSP00000332530.4:p.Ala70Val
ENST00000331772.8:c.209C>T ENSP00000332530.4:p.Ala70Val
ENST00000371947.7:c.209C>T ENSP00000361015.3:p.Ala70Val
ENST00000437752.2:c.209C>T ENSP00000387577.2:p.Ala70Val
ENST00000466945.5:n.351C>T
ENST00000481793.1:n.258+856C>T
NM_001031709.2:c.209C>T NP_001026879.2:p.Ala70Val
NM_018363.3:c.209C>T NP_060833.1:p.Ala70Val
XM_005269946.1:c.209C>T XP_005270003.1:p.Ala70Val
XM_005269947.1:c.209C>T XP_005270004.1:p.Ala70Val
XM_005269948.1:c.118+856C>T XP_005270005.1:n.118+856C>T
XM_005269949.3:c.209C>T XP_005270006.1:p.Ala70Val
XM_005269950.2:c.118+856C>T XP_005270007.1:n.118+856C>T
XM_011539924.1:c.209C>T XP_011538226.1:p.Ala70Val
XM_011539925.1:c.209C>T XP_011538227.1:p.Ala70Val
XM_011539926.1:c.209C>T XP_011538228.1:p.Ala70Val
XM_011539927.1:c.209C>T XP_011538229.1:p.Ala70Val
XM_005269946.2:c.209C>T XP_005270003.1:p.Ala70Val
XM_005269947.2:c.209C>T XP_005270004.1:p.Ala70Val
XM_005269948.3:c.118+856C>T XP_005270005.1:n.118+856C>T
XM_005269949.5:c.209C>T XP_005270006.1:p.Ala70Val
XM_005269950.4:c.118+856C>T XP_005270007.1:n.118+856C>T
XM_011539924.3:c.209C>T XP_011538226.1:p.Ala70Val
XM_011539927.3:c.209C>T XP_011538229.1:p.Ala70Val
XM_017016380.2:c.209C>T XP_016871869.1:p.Ala70Val
XM_017016381.2:c.209C>T XP_016871870.1:p.Ala70Val
XM_017016382.2:c.118+856C>T XP_016871871.1:n.118+856C>T
XM_017016383.2:c.209C>T XP_016871872.1:p.Ala70Val
XM_017016384.2:c.118+856C>T XP_016871873.1:n.118+856C>T
XM_024448063.1:c.118+856C>T XP_024303831.1:n.118+856C>T
XR_001747122.2:n.1499C>T
NM_001031709.3:c.209C>T MANE Select NP_001026879.2:p.Ala70Val
NM_018363.4:c.209C>T NP_060833.1:p.Ala70Val