Canonical Allele Identifier: CA10633367

Gene: RDX

Linked Data

• ClinVar Variation Id: 302332
• ClinVar RCV Id: RCV000394549
• dbSNP Id: rs886047643
• gnomAD v3: 11-110230811-C-T
• gnomAD v4: 11-110230811-C-T
• MyVariant Identifiers: chr11:g.110101536C>T (hg19) ; chr11:g.110230811C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.110230811C>T , CM000673.2:g.110230811C>T	GRCh38
NC_000011.9:g.110101536C>T , CM000673.1:g.110101536C>T	GRCh37
NC_000011.8:g.109606746C>T	NCBI36
NG_023044.1:g.70902G>A
NG_023044.2:g.70902G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645312.1:c.391+1062G>A
ENST00000645495.2:c.*1058G>A MANE Select	ENSP00000496503.2:n.*1058G>A
ENST00000645527.1:c.1587+2426G>A	ENSP00000496121.1:n.1587+2426G>A
ENST00000646663.1:c.1748+1062G>A	ENSP00000494693.1:n.1748+1062G>A
ENST00000647231.1:c.1748+1062G>A	ENSP00000496414.1:n.1748+1062G>A
ENST00000343115.8:c.*1058G>A	ENSP00000342830.4:n.*1058G>A
ENST00000405097.5:c.1748+1062G>A	ENSP00000384136.1:n.1748+1062G>A
ENST00000527537.5:n.2039G>A
ENST00000528498.5:c.1748+1062G>A	ENSP00000432112.1:n.1748+1062G>A
ENST00000528900.5:c.707+1062G>A	ENSP00000433580.1:n.707+1062G>A
ENST00000530301.5:c.536+1062G>A	ENSP00000436277.1:n.536+1062G>A
ENST00000530749.5:c.1748+1062G>A	ENSP00000437301.1:n.1748+1062G>A
ENST00000532461.5:n.1925G>A
ENST00000544551.5:c.*1058G>A	ENSP00000445826.1:n.*1058G>A
NM_001260492.1:c.1748+1062G>A	NP_001247421.1:n.1748+1062G>A
NM_001260493.1:c.1748+1062G>A	NP_001247422.1:n.1748+1062G>A
NM_001260494.1:c.*1058G>A	NP_001247423.1:n.*1058G>A
NM_001260495.1:c.707+1062G>A	NP_001247424.1:n.707+1062G>A
NM_001260496.1:c.536+1062G>A	NP_001247425.1:n.536+1062G>A
NM_002906.3:c.*1058G>A	NP_002897.1:n.*1058G>A
NM_001260492.2:c.1748+1062G>A	NP_001247421.1:n.1748+1062G>A
NM_002906.4:c.*1058G>A MANE Select	NP_002897.1:n.*1058G>A
NM_001260493.2:c.1748+1062G>A	NP_001247422.1:n.1748+1062G>A
NM_001260494.2:c.*1058G>A	NP_001247423.1:n.*1058G>A
NM_001260495.2:c.707+1062G>A	NP_001247424.1:n.707+1062G>A
NM_001260496.2:c.536+1062G>A	NP_001247425.1:n.536+1062G>A