Canonical Allele Identifier: CA6269949

Gene: RDX

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.110233256C>T , CM000673.2:g.110233256C>T	GRCh38
NC_000011.9:g.110103981C>T , CM000673.1:g.110103981C>T	GRCh37
NC_000011.8:g.109609191C>T	NCBI36
NG_023044.1:g.68457G>A
NG_023044.2:g.68457G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002906.4:c.1568G>A MANE Select	NP_002897.1:p.Arg523His
ENST00000645495.2:c.1568G>A MANE Select	ENSP00000496503.2:p.Arg523His
NM_001260492.1:c.1568G>A	NP_001247421.1:p.Arg523His
NM_001260492.2:c.1568G>A	NP_001247421.1:p.Arg523His
NM_001260493.1:c.1568G>A	NP_001247422.1:p.Arg523His
NM_001260493.2:c.1568G>A	NP_001247422.1:p.Arg523His
NM_001260494.1:c.1160G>A	NP_001247423.1:p.Arg387His
NM_001260494.2:c.1160G>A	NP_001247423.1:p.Arg387His
NM_001260495.1:c.527G>A	NP_001247424.1:p.Arg176His
NM_001260495.2:c.527G>A	NP_001247424.1:p.Arg176His
NM_001260496.1:c.405-1252G>A	NP_001247425.1:n.405-1252G>A
NM_001260496.2:c.405-1252G>A	NP_001247425.1:n.405-1252G>A
NM_002906.3:c.1568G>A	NP_002897.1:p.Arg523His
ENST00000343115.8:c.1568G>A	ENSP00000342830.4:p.Arg523His
ENST00000405097.5:c.1568G>A	ENSP00000384136.1:p.Arg523His
ENST00000527537.5:n.797G>A
ENST00000528498.5:c.1568G>A	ENSP00000432112.1:p.Arg523His
ENST00000528900.5:c.527G>A	ENSP00000433580.1:p.Arg176His
ENST00000530085.2:n.578G>A
ENST00000530131.5:c.*1038G>A	ENSP00000432829.1:n.*1038G>A
ENST00000530301.5:c.405-1252G>A	ENSP00000436277.1:n.405-1252G>A
ENST00000530749.5:c.1568G>A	ENSP00000437301.1:p.Arg523His
ENST00000532461.5:n.683G>A
ENST00000533961.1:n.268G>A
ENST00000544551.5:c.1160G>A	ENSP00000445826.1:p.Arg387His
ENST00000645312.1:c.211G>A
ENST00000645527.1:c.1568G>A	ENSP00000496121.1:p.Arg523His
ENST00000646663.1:c.1568G>A	ENSP00000494693.1:p.Arg523His
ENST00000647231.1:c.1568G>A	ENSP00000496414.1:p.Arg523His