Canonical Allele Identifier: CA341946008

Gene: RFX5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151345189C>T , CM000663.2:g.151345189C>T	GRCh38
NC_000001.10:g.151317665C>T , CM000663.1:g.151317665C>T	GRCh37
NC_000001.9:g.149584289C>T	NCBI36
NG_007576.1:g.7105G>A , LRG_101:g.7105G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001025603.2:c.151-1G>A MANE Select	NP_001020774.1:n.151-1G>A
ENST00000452671.7:c.151-1G>A MANE Select	ENSP00000389130.2:n.151-1G>A
NM_000449.3:c.151-1G>A , LRG_101t1:c.151-1G>A	NP_000440.1:n.151-1G>A
NM_000449.4:c.151-1G>A	NP_000440.1:n.151-1G>A
NM_001025603.1:c.151-1G>A	NP_001020774.1:n.151-1G>A
NM_001379412.1:c.151-1G>A	NP_001366341.1:n.151-1G>A
NM_001379413.1:c.151-1G>A	NP_001366342.1:n.151-1G>A
NM_001379414.1:c.151-1G>A	NP_001366343.1:n.151-1G>A
NM_001379415.1:c.151-1G>A	NP_001366344.1:n.151-1G>A
NM_001379416.1:c.151-1G>A	NP_001366345.1:n.151-1G>A
NM_001379417.1:c.151-1G>A	NP_001366346.1:n.151-1G>A
NM_001379418.1:c.151-1G>A	NP_001366347.1:n.151-1G>A
NM_001379419.1:c.151-1G>A	NP_001366348.1:n.151-1G>A
NM_001379420.1:c.151-1G>A	NP_001366349.1:n.151-1G>A
ENST00000290524.8:c.151-1G>A	ENSP00000290524.4:n.151-1G>A
ENST00000368870.6:c.151-1G>A	ENSP00000357864.2:n.151-1G>A
ENST00000392746.7:c.151-1G>A	ENSP00000376502.3:n.151-1G>A
ENST00000412774.5:c.151-1G>A	ENSP00000396810.1:n.151-1G>A
ENST00000421986.5:c.*12-1G>A	ENSP00000399372.1:n.*12-1G>A
ENST00000422595.5:c.151-1G>A	ENSP00000399095.1:n.151-1G>A
ENST00000430227.5:c.151-1G>A	ENSP00000387618.1:n.151-1G>A
ENST00000435314.5:c.*12-1G>A	ENSP00000415012.1:n.*12-1G>A
ENST00000436271.5:c.151-1G>A	ENSP00000390720.1:n.151-1G>A
ENST00000437327.5:c.151-1G>A	ENSP00000413153.1:n.151-1G>A
ENST00000444392.5:c.*156-1G>A	ENSP00000412900.1:n.*156-1G>A
ENST00000450506.5:c.151-1G>A	ENSP00000398666.1:n.151-1G>A
ENST00000452456.1:c.*156-1G>A	ENSP00000405067.1:n.*156-1G>A
ENST00000452671.6:c.151-1G>A	ENSP00000389130.2:n.151-1G>A
ENST00000458484.5:c.151-1G>A	ENSP00000409187.1:n.151-1G>A
ENST00000478564.5:n.325-1G>A
ENST00000479681.5:n.384-1G>A
ENST00000494217.5:n.362-1G>A
XM_005245405.1:c.151-1G>A	XP_005245462.1:n.151-1G>A
XM_005245406.2:c.151-1G>A	XP_005245463.1:n.151-1G>A
XM_005245406.3:c.151-1G>A	XP_005245463.1:n.151-1G>A
XM_011509847.1:c.151-1G>A	XP_011508149.1:n.151-1G>A
XM_011509848.1:c.151-1G>A	XP_011508150.1:n.151-1G>A
XM_011509849.1:c.151-1G>A	XP_011508151.1:n.151-1G>A
XM_011509850.1:c.151-1G>A	XP_011508152.1:n.151-1G>A
XM_017001999.1:c.-431-1G>A	XP_016857488.1:n.-431-1G>A
XM_017002000.1:c.-431-1G>A	XP_016857489.1:n.-431-1G>A
XM_024448791.1:c.-431-1G>A	XP_024304559.1:n.-431-1G>A