Canonical Allele Identifier: CA2404034
Community Standard Title: NM_022064.5(RNF123):c.1625G>A (p.Arg542Gln)
Gene: RNF123 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49702401G>A , CM000665.2:g.49702401G>A GRCh38
NC_000003.11:g.49739834G>A , CM000665.1:g.49739834G>A GRCh37
NC_000003.10:g.49714838G>A NCBI36
NG_011603.1:g.17845G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022064.5:c.1625G>A MANE Select NP_071347.2:p.Arg542Gln
ENST00000327697.11:c.1625G>A MANE Select ENSP00000328287.6:p.Arg542Gln
NM_022064.3:c.1625G>A NP_071347.2:p.Arg542Gln
NM_022064.4:c.1625G>A NP_071347.2:p.Arg542Gln
NR_135218.1:n.1769G>A
NR_135218.2:n.1711G>A
ENST00000327697.10:c.1625G>A ENSP00000328287.6:p.Arg542Gln
ENST00000432042.5:c.1187G>A ENSP00000392443.1:p.Arg396Gln
ENST00000457726.5:c.1625G>A ENSP00000394369.1:p.Arg542Gln
ENST00000486102.5:n.1706G>A
ENST00000487805.6:n.2276G>A
XM_006713285.1:c.1625G>A XP_006713348.1:p.Arg542Gln
XM_011533995.1:c.1625G>A XP_011532297.1:p.Arg542Gln
XM_017007018.1:c.1625G>A XP_016862507.1:p.Arg542Gln
XR_001740230.2:n.1739G>A
XR_940486.1:n.1751G>A