Canonical Allele Identifier: CA341935490

Gene: RFX5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151343391A>C , CM000663.2:g.151343391A>C	GRCh38
NC_000001.10:g.151315867A>C , CM000663.1:g.151315867A>C	GRCh37
NC_000001.9:g.149582491A>C	NCBI36
NG_007576.1:g.8903T>G , LRG_101:g.8903T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001025603.2:c.809T>G MANE Select	NP_001020774.1:p.Leu270Ter
ENST00000452671.7:c.809T>G MANE Select	ENSP00000389130.2:p.Leu270Ter
NM_000449.3:c.809T>G , LRG_101t1:c.809T>G	NP_000440.1:p.Leu270Ter
NM_000449.4:c.809T>G	NP_000440.1:p.Leu270Ter
NM_001025603.1:c.809T>G	NP_001020774.1:p.Leu270Ter
NM_001379412.1:c.809T>G	NP_001366341.1:p.Leu270Ter
NM_001379413.1:c.809T>G	NP_001366342.1:p.Leu270Ter
NM_001379414.1:c.809T>G	NP_001366343.1:p.Leu270Ter
NM_001379415.1:c.809T>G	NP_001366344.1:p.Leu270Ter
NM_001379416.1:c.809T>G	NP_001366345.1:p.Leu270Ter
NM_001379417.1:c.809T>G	NP_001366346.1:p.Leu270Ter
NM_001379418.1:c.809T>G	NP_001366347.1:p.Leu270Ter
NM_001379419.1:c.689T>G	NP_001366348.1:p.Leu230Ter
NM_001379420.1:c.689T>G	NP_001366349.1:p.Leu230Ter
ENST00000290524.8:c.809T>G	ENSP00000290524.4:p.Leu270Ter
ENST00000368870.6:c.809T>G	ENSP00000357864.2:p.Leu270Ter
ENST00000392746.7:c.809T>G	ENSP00000376502.3:p.Leu270Ter
ENST00000436637.5:c.485T>G	ENSP00000390769.1:p.Leu162Ter
ENST00000452671.6:c.809T>G	ENSP00000389130.2:p.Leu270Ter
XM_005245405.1:c.809T>G	XP_005245462.1:p.Leu270Ter
XM_005245406.2:c.809T>G	XP_005245463.1:p.Leu270Ter
XM_005245406.3:c.809T>G	XP_005245463.1:p.Leu270Ter
XM_011509847.1:c.809T>G	XP_011508149.1:p.Leu270Ter
XM_011509848.1:c.809T>G	XP_011508150.1:p.Leu270Ter
XM_011509849.1:c.809T>G	XP_011508151.1:p.Leu270Ter
XM_011509850.1:c.809T>G	XP_011508152.1:p.Leu270Ter
XM_017001999.1:c.296T>G	XP_016857488.1:p.Leu99Ter
XM_017002000.1:c.296T>G	XP_016857489.1:p.Leu99Ter
XM_024448791.1:c.296T>G	XP_024304559.1:p.Leu99Ter