Canonical Allele Identifier: CA341941394
Community Standard Title: NM_001025603.2(RFX5):c.445C>T (p.Arg149Ter)
Gene: RFX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151344445G>A , CM000663.2:g.151344445G>A GRCh38
NC_000001.10:g.151316921G>A , CM000663.1:g.151316921G>A GRCh37
NC_000001.9:g.149583545G>A NCBI36
NG_007576.1:g.7849C>T , LRG_101:g.7849C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001025603.2:c.445C>T MANE Select NP_001020774.1:p.Arg149Ter
ENST00000452671.7:c.445C>T MANE Select ENSP00000389130.2:p.Arg149Ter
NM_000449.3:c.445C>T , LRG_101t1:c.445C>T NP_000440.1:p.Arg149Ter
NM_000449.4:c.445C>T NP_000440.1:p.Arg149Ter
NM_001025603.1:c.445C>T NP_001020774.1:p.Arg149Ter
NM_001379412.1:c.445C>T NP_001366341.1:p.Arg149Ter
NM_001379413.1:c.445C>T NP_001366342.1:p.Arg149Ter
NM_001379414.1:c.445C>T NP_001366343.1:p.Arg149Ter
NM_001379415.1:c.445C>T NP_001366344.1:p.Arg149Ter
NM_001379416.1:c.445C>T NP_001366345.1:p.Arg149Ter
NM_001379417.1:c.445C>T NP_001366346.1:p.Arg149Ter
NM_001379418.1:c.445C>T NP_001366347.1:p.Arg149Ter
NM_001379419.1:c.325C>T NP_001366348.1:p.Arg109Ter
NM_001379420.1:c.325C>T NP_001366349.1:p.Arg109Ter
ENST00000290524.8:c.445C>T ENSP00000290524.4:p.Arg149Ter
ENST00000368870.6:c.445C>T ENSP00000357864.2:p.Arg149Ter
ENST00000392746.7:c.445C>T ENSP00000376502.3:p.Arg149Ter
ENST00000422595.5:c.445C>T ENSP00000399095.1:p.Arg149Ter
ENST00000436637.5:c.121C>T ENSP00000390769.1:p.Arg41Ter
ENST00000450506.5:c.445C>T ENSP00000398666.1:p.Arg149Ter
ENST00000452671.6:c.445C>T ENSP00000389130.2:p.Arg149Ter
ENST00000458484.5:c.445C>T ENSP00000409187.1:p.Arg149Ter
ENST00000469513.5:n.284C>T
ENST00000475144.1:n.223C>T
XM_005245405.1:c.445C>T XP_005245462.1:p.Arg149Ter
XM_005245406.2:c.445C>T XP_005245463.1:p.Arg149Ter
XM_005245406.3:c.445C>T XP_005245463.1:p.Arg149Ter
XM_011509847.1:c.445C>T XP_011508149.1:p.Arg149Ter
XM_011509848.1:c.445C>T XP_011508150.1:p.Arg149Ter
XM_011509849.1:c.445C>T XP_011508151.1:p.Arg149Ter
XM_011509850.1:c.445C>T XP_011508152.1:p.Arg149Ter
XM_017001999.1:c.-69C>T XP_016857488.1:n.-69C>T
XM_017002000.1:c.-69C>T XP_016857489.1:n.-69C>T
XM_024448791.1:c.-69C>T XP_024304559.1:n.-69C>T