Canonical Allele Identifier: CA382868145

Gene: RDX

Linked Data

• ClinVar Variation Id: 638047
• ClinVar RCV Id: RCV000790510
• dbSNP Id: rs1591158999
• MyVariant Identifiers: chr11:g.110128829A>G (hg19) ; chr11:g.110258104A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.110258104A>G , CM000673.2:g.110258104A>G	GRCh38
NC_000011.9:g.110128829A>G , CM000673.1:g.110128829A>G	GRCh37
NC_000011.8:g.109634039A>G	NCBI36
NG_023044.1:g.43609T>C
NG_023044.2:g.43609T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645495.2:c.551+2T>C MANE Select	ENSP00000496503.2:n.551+2T>C
ENST00000645527.1:c.551+2T>C	ENSP00000496121.1:n.551+2T>C
ENST00000646663.1:c.551+2T>C	ENSP00000494693.1:n.551+2T>C
ENST00000647231.1:c.551+2T>C	ENSP00000496414.1:n.551+2T>C
ENST00000343115.8:c.551+2T>C	ENSP00000342830.4:n.551+2T>C
ENST00000405097.5:c.551+2T>C	ENSP00000384136.1:n.551+2T>C
ENST00000528498.5:c.551+2T>C	ENSP00000432112.1:n.551+2T>C
ENST00000528900.5:c.-82-10271T>C	ENSP00000433580.1:n.-82-10271T>C
ENST00000529774.1:n.103+2T>C
ENST00000530131.5:c.*21+2T>C	ENSP00000432829.1:n.*21+2T>C
ENST00000530301.5:c.404+53T>C	ENSP00000436277.1:n.404+53T>C
ENST00000530749.5:c.551+2T>C	ENSP00000437301.1:n.551+2T>C
ENST00000534683.1:c.8+2T>C	ENSP00000431560.1:n.8+2T>C
ENST00000544551.5:c.143+2T>C	ENSP00000445826.1:n.143+2T>C
NM_001260492.1:c.551+2T>C	NP_001247421.1:n.551+2T>C
NM_001260493.1:c.551+2T>C	NP_001247422.1:n.551+2T>C
NM_001260494.1:c.143+2T>C	NP_001247423.1:n.143+2T>C
NM_001260495.1:c.-82-10271T>C	NP_001247424.1:n.-82-10271T>C
NM_001260496.1:c.404+53T>C	NP_001247425.1:n.404+53T>C
NM_002906.3:c.551+2T>C	NP_002897.1:n.551+2T>C
NM_001260492.2:c.551+2T>C	NP_001247421.1:n.551+2T>C
NM_002906.4:c.551+2T>C MANE Select	NP_002897.1:n.551+2T>C
NM_001260493.2:c.551+2T>C	NP_001247422.1:n.551+2T>C
NM_001260494.2:c.143+2T>C	NP_001247423.1:n.143+2T>C
NM_001260495.2:c.-82-10271T>C	NP_001247424.1:n.-82-10271T>C
NM_001260496.2:c.404+53T>C	NP_001247425.1:n.404+53T>C