Canonical Allele Identifier: CA341939680

Gene: RFX5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151344196C>G , CM000663.2:g.151344196C>G	GRCh38
NC_000001.10:g.151316672C>G , CM000663.1:g.151316672C>G	GRCh37
NC_000001.9:g.149583296C>G	NCBI36
NG_007576.1:g.8098G>C , LRG_101:g.8098G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001025603.2:c.555+1G>C MANE Select	NP_001020774.1:n.555+1G>C
ENST00000452671.7:c.555+1G>C MANE Select	ENSP00000389130.2:n.555+1G>C
NM_000449.3:c.555+1G>C , LRG_101t1:c.555+1G>C	NP_000440.1:n.555+1G>C
NM_000449.4:c.555+1G>C	NP_000440.1:n.555+1G>C
NM_001025603.1:c.555+1G>C	NP_001020774.1:n.555+1G>C
NM_001379412.1:c.555+1G>C	NP_001366341.1:n.555+1G>C
NM_001379413.1:c.555+1G>C	NP_001366342.1:n.555+1G>C
NM_001379414.1:c.555+1G>C	NP_001366343.1:n.555+1G>C
NM_001379415.1:c.555+1G>C	NP_001366344.1:n.555+1G>C
NM_001379416.1:c.555+1G>C	NP_001366345.1:n.555+1G>C
NM_001379417.1:c.555+1G>C	NP_001366346.1:n.555+1G>C
NM_001379418.1:c.555+1G>C	NP_001366347.1:n.555+1G>C
NM_001379419.1:c.435+1G>C	NP_001366348.1:n.435+1G>C
NM_001379420.1:c.435+1G>C	NP_001366349.1:n.435+1G>C
ENST00000290524.8:c.555+1G>C	ENSP00000290524.4:n.555+1G>C
ENST00000368870.6:c.555+1G>C	ENSP00000357864.2:n.555+1G>C
ENST00000392746.7:c.555+1G>C	ENSP00000376502.3:n.555+1G>C
ENST00000422595.5:c.555+1G>C	ENSP00000399095.1:n.555+1G>C
ENST00000436637.5:c.231+1G>C	ENSP00000390769.1:n.231+1G>C
ENST00000452671.6:c.555+1G>C	ENSP00000389130.2:n.555+1G>C
ENST00000475144.1:n.333+1G>C
XM_005245405.1:c.555+1G>C	XP_005245462.1:n.555+1G>C
XM_005245406.2:c.555+1G>C	XP_005245463.1:n.555+1G>C
XM_005245406.3:c.555+1G>C	XP_005245463.1:n.555+1G>C
XM_011509847.1:c.555+1G>C	XP_011508149.1:n.555+1G>C
XM_011509848.1:c.555+1G>C	XP_011508150.1:n.555+1G>C
XM_011509849.1:c.555+1G>C	XP_011508151.1:n.555+1G>C
XM_011509850.1:c.555+1G>C	XP_011508152.1:n.555+1G>C
XM_017001999.1:c.42+1G>C	XP_016857488.1:n.42+1G>C
XM_017002000.1:c.42+1G>C	XP_016857489.1:n.42+1G>C
XM_024448791.1:c.42+1G>C	XP_024304559.1:n.42+1G>C