Canonical Allele Identifier: CA1089733
Gene: RFX5 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151343329C>T , CM000663.2:g.151343329C>T GRCh38
NC_000001.10:g.151315805C>T , CM000663.1:g.151315805C>T GRCh37
NC_000001.9:g.149582429C>T NCBI36
NG_007576.1:g.8965G>A , LRG_101:g.8965G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000452671.7:c.858+13G>A MANE Select ENSP00000389130.2:n.858+13G>A
ENST00000290524.8:c.858+13G>A ENSP00000290524.4:n.858+13G>A
ENST00000368870.6:c.858+13G>A ENSP00000357864.2:n.858+13G>A
ENST00000392746.7:c.858+13G>A ENSP00000376502.3:n.858+13G>A
ENST00000436637.5:c.534+13G>A ENSP00000390769.1:n.534+13G>A
ENST00000452671.6:c.858+13G>A ENSP00000389130.2:n.858+13G>A
NM_000449.3:c.858+13G>A , LRG_101t1:c.858+13G>A NP_000440.1:n.858+13G>A
NM_001025603.1:c.858+13G>A NP_001020774.1:n.858+13G>A
XM_005245405.1:c.858+13G>A XP_005245462.1:n.858+13G>A
XM_005245406.2:c.858+13G>A XP_005245463.1:n.858+13G>A
XM_011509847.1:c.858+13G>A XP_011508149.1:n.858+13G>A
XM_011509848.1:c.858+13G>A XP_011508150.1:n.858+13G>A
XM_011509849.1:c.858+13G>A XP_011508151.1:n.858+13G>A
XM_011509850.1:c.858+13G>A XP_011508152.1:n.858+13G>A
XM_005245406.3:c.858+13G>A XP_005245463.1:n.858+13G>A
XM_017001999.1:c.345+13G>A XP_016857488.1:n.345+13G>A
XM_017002000.1:c.345+13G>A XP_016857489.1:n.345+13G>A
XM_024448791.1:c.345+13G>A XP_024304559.1:n.345+13G>A
NM_001025603.2:c.858+13G>A MANE Select NP_001020774.1:n.858+13G>A
NM_000449.4:c.858+13G>A NP_000440.1:n.858+13G>A
NM_001379412.1:c.858+13G>A NP_001366341.1:n.858+13G>A
NM_001379413.1:c.858+13G>A NP_001366342.1:n.858+13G>A
NM_001379414.1:c.858+13G>A NP_001366343.1:n.858+13G>A
NM_001379415.1:c.858+13G>A NP_001366344.1:n.858+13G>A
NM_001379416.1:c.858+13G>A NP_001366345.1:n.858+13G>A
NM_001379417.1:c.858+13G>A NP_001366346.1:n.858+13G>A
NM_001379418.1:c.858+13G>A NP_001366347.1:n.858+13G>A
NM_001379419.1:c.738+13G>A NP_001366348.1:n.738+13G>A
NM_001379420.1:c.738+13G>A NP_001366349.1:n.738+13G>A