Canonical Allele Identifier: CA6270296
Gene: RDX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.110258186T>A , CM000673.2:g.110258186T>A GRCh38
NC_000011.9:g.110128911T>A , CM000673.1:g.110128911T>A GRCh37
NC_000011.8:g.109634121T>A NCBI36
NG_023044.1:g.43527A>T
NG_023044.2:g.43527A>T

Transcript Alleles

HGVS Amino-acid Change
NM_002906.4:c.471A>T MANE Select NP_002897.1:p.Val157=
ENST00000645495.2:c.471A>T MANE Select ENSP00000496503.2:p.Val157=
NM_001260492.1:c.471A>T NP_001247421.1:p.Val157=
NM_001260492.2:c.471A>T NP_001247421.1:p.Val157=
NM_001260493.1:c.471A>T NP_001247422.1:p.Val157=
NM_001260493.2:c.471A>T NP_001247422.1:p.Val157=
NM_001260494.1:c.63A>T NP_001247423.1:p.Val21=
NM_001260494.2:c.63A>T NP_001247423.1:p.Val21=
NM_001260495.1:c.-82-10353A>T NP_001247424.1:n.-82-10353A>T
NM_001260495.2:c.-82-10353A>T NP_001247424.1:n.-82-10353A>T
NM_001260496.1:c.375A>T NP_001247425.1:p.Val125=
NM_001260496.2:c.375A>T NP_001247425.1:p.Val125=
NM_002906.3:c.471A>T NP_002897.1:p.Val157=
ENST00000343115.8:c.471A>T ENSP00000342830.4:p.Val157=
ENST00000405097.5:c.471A>T ENSP00000384136.1:p.Val157=
ENST00000528498.5:c.471A>T ENSP00000432112.1:p.Val157=
ENST00000528900.5:c.-82-10353A>T ENSP00000433580.1:n.-82-10353A>T
ENST00000529774.1:n.23A>T
ENST00000530131.5:c.100A>T ENSP00000432829.1:p.Ile34Phe
ENST00000530301.5:c.375A>T ENSP00000436277.1:p.Val125=
ENST00000530749.5:c.471A>T ENSP00000437301.1:p.Val157=
ENST00000532118.5:c.438A>T ENSP00000437140.1:p.Val146=
ENST00000534683.1:c.-73A>T ENSP00000431560.1:n.-73A>T
ENST00000544551.5:c.63A>T ENSP00000445826.1:p.Val21=
ENST00000642511.1:c.429A>T
ENST00000645527.1:c.471A>T ENSP00000496121.1:p.Val157=
ENST00000646663.1:c.471A>T ENSP00000494693.1:p.Val157=
ENST00000647231.1:c.471A>T ENSP00000496414.1:p.Val157=