Canonical Allele Identifier: CA382868158

Gene: RDX

Linked Data

• MyVariant Identifiers: chr11:g.110128834A>G (hg19) ; chr11:g.110258109A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.110258109A>G , CM000673.2:g.110258109A>G	GRCh38
NC_000011.9:g.110128834A>G , CM000673.1:g.110128834A>G	GRCh37
NC_000011.8:g.109634044A>G	NCBI36
NG_023044.1:g.43604T>C
NG_023044.2:g.43604T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645495.2:c.548T>C MANE Select	ENSP00000496503.2:p.Leu183Ser
ENST00000645527.1:c.548T>C	ENSP00000496121.1:p.Leu183Ser
ENST00000646663.1:c.548T>C	ENSP00000494693.1:p.Leu183Ser
ENST00000647231.1:c.548T>C	ENSP00000496414.1:p.Leu183Ser
ENST00000343115.8:c.548T>C	ENSP00000342830.4:p.Leu183Ser
ENST00000405097.5:c.548T>C	ENSP00000384136.1:p.Leu183Ser
ENST00000528498.5:c.548T>C	ENSP00000432112.1:p.Leu183Ser
ENST00000528900.5:c.-82-10276T>C	ENSP00000433580.1:n.-82-10276T>C
ENST00000529774.1:n.100T>C
ENST00000530131.5:c.*18T>C	ENSP00000432829.1:n.*18T>C
ENST00000530301.5:c.404+48T>C	ENSP00000436277.1:n.404+48T>C
ENST00000530749.5:c.548T>C	ENSP00000437301.1:p.Leu183Ser
ENST00000534683.1:c.5T>C	ENSP00000431560.1:p.Leu2Ser
ENST00000544551.5:c.140T>C	ENSP00000445826.1:p.Leu47Ser
NM_001260492.1:c.548T>C	NP_001247421.1:p.Leu183Ser
NM_001260493.1:c.548T>C	NP_001247422.1:p.Leu183Ser
NM_001260494.1:c.140T>C	NP_001247423.1:p.Leu47Ser
NM_001260495.1:c.-82-10276T>C	NP_001247424.1:n.-82-10276T>C
NM_001260496.1:c.404+48T>C	NP_001247425.1:n.404+48T>C
NM_002906.3:c.548T>C	NP_002897.1:p.Leu183Ser
NM_001260492.2:c.548T>C	NP_001247421.1:p.Leu183Ser
NM_002906.4:c.548T>C MANE Select	NP_002897.1:p.Leu183Ser
NM_001260493.2:c.548T>C	NP_001247422.1:p.Leu183Ser
NM_001260494.2:c.140T>C	NP_001247423.1:p.Leu47Ser
NM_001260495.2:c.-82-10276T>C	NP_001247424.1:n.-82-10276T>C
NM_001260496.2:c.404+48T>C	NP_001247425.1:n.404+48T>C