Canonical Allele Identifier: CA1089713

Gene: RFX5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151343145C>T , CM000663.2:g.151343145C>T	GRCh38
NC_000001.10:g.151315621C>T , CM000663.1:g.151315621C>T	GRCh37
NC_000001.9:g.149582245C>T	NCBI36
NG_007576.1:g.9149G>A , LRG_101:g.9149G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452671.7:c.892G>A MANE Select	ENSP00000389130.2:p.Gly298Ser
ENST00000290524.8:c.892G>A	ENSP00000290524.4:p.Gly298Ser
ENST00000368870.6:c.892G>A	ENSP00000357864.2:p.Gly298Ser
ENST00000392746.7:c.892G>A	ENSP00000376502.3:p.Gly298Ser
ENST00000436637.5:c.568G>A	ENSP00000390769.1:p.Gly190Ser
ENST00000452671.6:c.892G>A	ENSP00000389130.2:p.Gly298Ser
NM_000449.3:c.892G>A , LRG_101t1:c.892G>A	NP_000440.1:p.Gly298Ser
NM_001025603.1:c.892G>A	NP_001020774.1:p.Gly298Ser
XM_005245405.1:c.892G>A	XP_005245462.1:p.Gly298Ser
XM_005245406.2:c.892G>A	XP_005245463.1:p.Gly298Ser
XM_011509847.1:c.892G>A	XP_011508149.1:p.Gly298Ser
XM_011509848.1:c.892G>A	XP_011508150.1:p.Gly298Ser
XM_011509849.1:c.892G>A	XP_011508151.1:p.Gly298Ser
XM_011509850.1:c.892G>A	XP_011508152.1:p.Gly298Ser
XM_005245406.3:c.892G>A	XP_005245463.1:p.Gly298Ser
XM_017001999.1:c.379G>A	XP_016857488.1:p.Gly127Ser
XM_017002000.1:c.379G>A	XP_016857489.1:p.Gly127Ser
XM_024448791.1:c.379G>A	XP_024304559.1:p.Gly127Ser
NM_001025603.2:c.892G>A MANE Select	NP_001020774.1:p.Gly298Ser
NM_000449.4:c.892G>A	NP_000440.1:p.Gly298Ser
NM_001379412.1:c.892G>A	NP_001366341.1:p.Gly298Ser
NM_001379413.1:c.892G>A	NP_001366342.1:p.Gly298Ser
NM_001379414.1:c.892G>A	NP_001366343.1:p.Gly298Ser
NM_001379415.1:c.892G>A	NP_001366344.1:p.Gly298Ser
NM_001379416.1:c.892G>A	NP_001366345.1:p.Gly298Ser
NM_001379417.1:c.892G>A	NP_001366346.1:p.Gly298Ser
NM_001379418.1:c.892G>A	NP_001366347.1:p.Gly298Ser
NM_001379419.1:c.772G>A	NP_001366348.1:p.Gly258Ser
NM_001379420.1:c.772G>A	NP_001366349.1:p.Gly258Ser