Canonical Allele Identifier: CA6270150

Gene: RDX

Linked Data

• ClinVar Variation Id: 302348
• ClinVar RCV Id: RCV000374116 ; RCV002522178
• dbSNP Id: rs377016439
• ExAC: 11:110118469 C / T
• gnomAD v2: 11-110118469-C-T
• gnomAD v3: 11-110247744-C-T
• gnomAD v4: 11-110247744-C-T
• MyVariant Identifiers: chr11:g.110118469C>T (hg19) ; chr11:g.110247744C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.110247744C>T , CM000673.2:g.110247744C>T	GRCh38
NC_000011.9:g.110118469C>T , CM000673.1:g.110118469C>T	GRCh37
NC_000011.8:g.109623679C>T	NCBI36
NG_023044.1:g.53969G>A
NG_023044.2:g.53969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645495.2:c.1049G>A MANE Select	ENSP00000496503.2:p.Arg350His
ENST00000645527.1:c.1049G>A	ENSP00000496121.1:p.Arg350His
ENST00000646663.1:c.1049G>A	ENSP00000494693.1:p.Arg350His
ENST00000647231.1:c.1049G>A	ENSP00000496414.1:p.Arg350His
ENST00000343115.8:c.1049G>A	ENSP00000342830.4:p.Arg350His
ENST00000405097.5:c.1049G>A	ENSP00000384136.1:p.Arg350His
ENST00000528498.5:c.1049G>A	ENSP00000432112.1:p.Arg350His
ENST00000528900.5:c.8G>A	ENSP00000433580.1:p.Arg3His
ENST00000530131.5:c.*519G>A	ENSP00000432829.1:n.*519G>A
ENST00000530301.5:c.404+10413G>A	ENSP00000436277.1:n.404+10413G>A
ENST00000530749.5:c.1049G>A	ENSP00000437301.1:p.Arg350His
ENST00000544551.5:c.641G>A	ENSP00000445826.1:p.Arg214His
NM_001260492.1:c.1049G>A	NP_001247421.1:p.Arg350His
NM_001260493.1:c.1049G>A	NP_001247422.1:p.Arg350His
NM_001260494.1:c.641G>A	NP_001247423.1:p.Arg214His
NM_001260495.1:c.8G>A	NP_001247424.1:p.Arg3His
NM_001260496.1:c.404+10413G>A	NP_001247425.1:n.404+10413G>A
NM_002906.3:c.1049G>A	NP_002897.1:p.Arg350His
NM_001260492.2:c.1049G>A	NP_001247421.1:p.Arg350His
NM_002906.4:c.1049G>A MANE Select	NP_002897.1:p.Arg350His
NM_001260493.2:c.1049G>A	NP_001247422.1:p.Arg350His
NM_001260494.2:c.641G>A	NP_001247423.1:p.Arg214His
NM_001260495.2:c.8G>A	NP_001247424.1:p.Arg3His
NM_001260496.2:c.404+10413G>A	NP_001247425.1:n.404+10413G>A