Canonical Allele Identifier: CA382868290

Gene: RDX

Linked Data

• gnomAD v4: 11-110258161-C-G
• MyVariant Identifiers: chr11:g.110128886C>G (hg19) ; chr11:g.110258161C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.110258161C>G , CM000673.2:g.110258161C>G	GRCh38
NC_000011.9:g.110128886C>G , CM000673.1:g.110128886C>G	GRCh37
NC_000011.8:g.109634096C>G	NCBI36
NG_023044.1:g.43552G>C
NG_023044.2:g.43552G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642511.1:c.454G>C
ENST00000645495.2:c.496G>C MANE Select	ENSP00000496503.2:p.Glu166Gln
ENST00000645527.1:c.496G>C	ENSP00000496121.1:p.Glu166Gln
ENST00000646663.1:c.496G>C	ENSP00000494693.1:p.Glu166Gln
ENST00000647231.1:c.496G>C	ENSP00000496414.1:p.Glu166Gln
ENST00000343115.8:c.496G>C	ENSP00000342830.4:p.Glu166Gln
ENST00000405097.5:c.496G>C	ENSP00000384136.1:p.Glu166Gln
ENST00000528498.5:c.496G>C	ENSP00000432112.1:p.Glu166Gln
ENST00000528900.5:c.-82-10328G>C	ENSP00000433580.1:n.-82-10328G>C
ENST00000529774.1:n.48G>C
ENST00000530131.5:c.125G>C	ENSP00000432829.1:p.Arg42Thr
ENST00000530301.5:c.400G>C	ENSP00000436277.1:p.Glu134Gln
ENST00000530749.5:c.496G>C	ENSP00000437301.1:p.Glu166Gln
ENST00000534683.1:c.-48G>C	ENSP00000431560.1:n.-48G>C
ENST00000544551.5:c.88G>C	ENSP00000445826.1:p.Glu30Gln
NM_001260492.1:c.496G>C	NP_001247421.1:p.Glu166Gln
NM_001260493.1:c.496G>C	NP_001247422.1:p.Glu166Gln
NM_001260494.1:c.88G>C	NP_001247423.1:p.Glu30Gln
NM_001260495.1:c.-82-10328G>C	NP_001247424.1:n.-82-10328G>C
NM_001260496.1:c.400G>C	NP_001247425.1:p.Glu134Gln
NM_002906.3:c.496G>C	NP_002897.1:p.Glu166Gln
NM_001260492.2:c.496G>C	NP_001247421.1:p.Glu166Gln
NM_002906.4:c.496G>C MANE Select	NP_002897.1:p.Glu166Gln
NM_001260493.2:c.496G>C	NP_001247422.1:p.Glu166Gln
NM_001260494.2:c.88G>C	NP_001247423.1:p.Glu30Gln
NM_001260495.2:c.-82-10328G>C	NP_001247424.1:n.-82-10328G>C
NM_001260496.2:c.400G>C	NP_001247425.1:p.Glu134Gln