Canonical Allele Identifier: CA1089696

Gene: RFX5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151343076G>A , CM000663.2:g.151343076G>A	GRCh38
NC_000001.10:g.151315552G>A , CM000663.1:g.151315552G>A	GRCh37
NC_000001.9:g.149582176G>A	NCBI36
NG_007576.1:g.9218C>T , LRG_101:g.9218C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001025603.2:c.961C>T MANE Select	NP_001020774.1:p.Gln321Ter
ENST00000452671.7:c.961C>T MANE Select	ENSP00000389130.2:p.Gln321Ter
NM_000449.3:c.961C>T , LRG_101t1:c.961C>T	NP_000440.1:p.Gln321Ter
NM_000449.4:c.961C>T	NP_000440.1:p.Gln321Ter
NM_001025603.1:c.961C>T	NP_001020774.1:p.Gln321Ter
NM_001379412.1:c.961C>T	NP_001366341.1:p.Gln321Ter
NM_001379413.1:c.961C>T	NP_001366342.1:p.Gln321Ter
NM_001379414.1:c.961C>T	NP_001366343.1:p.Gln321Ter
NM_001379415.1:c.961C>T	NP_001366344.1:p.Gln321Ter
NM_001379416.1:c.961C>T	NP_001366345.1:p.Gln321Ter
NM_001379417.1:c.961C>T	NP_001366346.1:p.Gln321Ter
NM_001379418.1:c.961C>T	NP_001366347.1:p.Gln321Ter
NM_001379419.1:c.841C>T	NP_001366348.1:p.Gln281Ter
NM_001379420.1:c.841C>T	NP_001366349.1:p.Gln281Ter
ENST00000290524.8:c.961C>T	ENSP00000290524.4:p.Gln321Ter
ENST00000368870.6:c.961C>T	ENSP00000357864.2:p.Gln321Ter
ENST00000392746.7:c.961C>T	ENSP00000376502.3:p.Gln321Ter
ENST00000436637.5:c.637C>T	ENSP00000390769.1:p.Gln213Ter
ENST00000452671.6:c.961C>T	ENSP00000389130.2:p.Gln321Ter
XM_005245405.1:c.961C>T	XP_005245462.1:p.Gln321Ter
XM_005245406.2:c.961C>T	XP_005245463.1:p.Gln321Ter
XM_005245406.3:c.961C>T	XP_005245463.1:p.Gln321Ter
XM_011509847.1:c.961C>T	XP_011508149.1:p.Gln321Ter
XM_011509848.1:c.961C>T	XP_011508150.1:p.Gln321Ter
XM_011509849.1:c.961C>T	XP_011508151.1:p.Gln321Ter
XM_011509850.1:c.961C>T	XP_011508152.1:p.Gln321Ter
XM_017001999.1:c.448C>T	XP_016857488.1:p.Gln150Ter
XM_017002000.1:c.448C>T	XP_016857489.1:p.Gln150Ter
XM_024448791.1:c.448C>T	XP_024304559.1:p.Gln150Ter