Canonical Allele Identifier: CA6270034
Gene: RDX HGNC NCBI

Linked Data

ClinVar Variation Id: 731759
ClinVar RCV Id: RCV000906765
dbSNP Id: rs778374468

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.110236171G>A , CM000673.2:g.110236171G>A GRCh38
NC_000011.9:g.110106896G>A , CM000673.1:g.110106896G>A GRCh37
NC_000011.8:g.109612106G>A NCBI36
NG_023044.1:g.65542C>T
NG_023044.2:g.65542C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645495.2:c.1272C>T MANE Select ENSP00000496503.2:p.Phe424=
ENST00000645527.1:c.1272C>T ENSP00000496121.1:p.Phe424=
ENST00000646663.1:c.1272C>T ENSP00000494693.1:p.Phe424=
ENST00000647231.1:c.1272C>T ENSP00000496414.1:p.Phe424=
ENST00000343115.8:c.1272C>T ENSP00000342830.4:p.Phe424=
ENST00000405097.5:c.1272C>T ENSP00000384136.1:p.Phe424=
ENST00000527537.5:n.501C>T
ENST00000528498.5:c.1272C>T ENSP00000432112.1:p.Phe424=
ENST00000528900.5:c.231C>T ENSP00000433580.1:p.Phe77=
ENST00000530085.2:n.282C>T
ENST00000530131.5:c.*742C>T ENSP00000432829.1:n.*742C>T
ENST00000530301.5:c.405-4167C>T ENSP00000436277.1:n.405-4167C>T
ENST00000530749.5:c.1272C>T ENSP00000437301.1:p.Phe424=
ENST00000532461.5:n.387C>T
ENST00000544551.5:c.864C>T ENSP00000445826.1:p.Phe288=
NM_001260492.1:c.1272C>T NP_001247421.1:p.Phe424=
NM_001260493.1:c.1272C>T NP_001247422.1:p.Phe424=
NM_001260494.1:c.864C>T NP_001247423.1:p.Phe288=
NM_001260495.1:c.231C>T NP_001247424.1:p.Phe77=
NM_001260496.1:c.405-4167C>T NP_001247425.1:n.405-4167C>T
NM_002906.3:c.1272C>T NP_002897.1:p.Phe424=
NM_001260492.2:c.1272C>T NP_001247421.1:p.Phe424=
NM_002906.4:c.1272C>T MANE Select NP_002897.1:p.Phe424=
NM_001260493.2:c.1272C>T NP_001247422.1:p.Phe424=
NM_001260494.2:c.864C>T NP_001247423.1:p.Phe288=
NM_001260495.2:c.231C>T NP_001247424.1:p.Phe77=
NM_001260496.2:c.405-4167C>T NP_001247425.1:n.405-4167C>T