Canonical Allele Identifier: CA1999729356
Community Standard Title: NM_002906.4(RDX):c.463C= (p.Gln155=)
Gene: RDX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.110263964G= , CM000673.2:g.110263964G= GRCh38
NC_000011.9:g.110134689G= , CM000673.1:g.110134689G= GRCh37
NC_000011.8:g.109639899G= NCBI36
NG_023044.1:g.37749C=
NG_023044.2:g.37749C=

Transcript Alleles

HGVS Amino-acid Change
NM_002906.4:c.463C= MANE Select NP_002897.1:p.Gln155=
ENST00000645495.2:c.463C= MANE Select ENSP00000496503.2:p.Gln155=
NM_001260492.1:c.463C= NP_001247421.1:p.Gln155=
NM_001260492.2:c.463C= NP_001247421.1:p.Gln155=
NM_001260493.1:c.463C= NP_001247422.1:p.Gln155=
NM_001260493.2:c.463C= NP_001247422.1:p.Gln155=
NM_001260494.1:c.60-5775C= NP_001247423.1:n.60-5775C=
NM_001260494.2:c.60-5775C= NP_001247423.1:n.60-5775C=
NM_001260495.1:c.-83+15717C= NP_001247424.1:n.-83+15717C=
NM_001260495.2:c.-83+15717C= NP_001247424.1:n.-83+15717C=
NM_001260496.1:c.367C= NP_001247425.1:p.Gln123=
NM_001260496.2:c.367C= NP_001247425.1:p.Gln123=
NM_002906.3:c.463C= NP_002897.1:p.Gln155=
ENST00000343115.8:c.463C= ENSP00000342830.4:p.Gln155=
ENST00000405097.5:c.463C= ENSP00000384136.1:p.Gln155=
ENST00000528498.5:c.463C= ENSP00000432112.1:p.Gln155=
ENST00000528556.5:c.*451C= ENSP00000434881.1:n.*451C=
ENST00000528900.5:c.-83+15717C= ENSP00000433580.1:n.-83+15717C=
ENST00000530131.5:c.97-5775C= ENSP00000432829.1:n.97-5775C=
ENST00000530301.5:c.367C= ENSP00000436277.1:p.Gln123=
ENST00000530749.5:c.463C= ENSP00000437301.1:p.Gln155=
ENST00000532118.5:c.430C= ENSP00000437140.1:p.Gln144=
ENST00000534683.1:c.-81C= ENSP00000431560.1:n.-81C=
ENST00000544551.5:c.60-5775C= ENSP00000445826.1:n.60-5775C=
ENST00000642511.1:c.317C=
ENST00000645527.1:c.463C= ENSP00000496121.1:p.Gln155=
ENST00000646663.1:c.463C= ENSP00000494693.1:p.Gln155=
ENST00000647231.1:c.463C= ENSP00000496414.1:p.Gln155=