Canonical Allele Identifier: CA6270292

Gene: RDX

Linked Data

• dbSNP Id: rs761056787
• ExAC: 11:110128889 T / G
• gnomAD v2: 11-110128889-T-G
• gnomAD v4: 11-110258164-T-G
• MyVariant Identifiers: chr11:g.110128889T>G (hg19) ; chr11:g.110258164T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.110258164T>G , CM000673.2:g.110258164T>G	GRCh38
NC_000011.9:g.110128889T>G , CM000673.1:g.110128889T>G	GRCh37
NC_000011.8:g.109634099T>G	NCBI36
NG_023044.1:g.43549A>C
NG_023044.2:g.43549A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642511.1:c.451A>C
ENST00000645495.2:c.493A>C MANE Select	ENSP00000496503.2:p.Lys165Gln
ENST00000645527.1:c.493A>C	ENSP00000496121.1:p.Lys165Gln
ENST00000646663.1:c.493A>C	ENSP00000494693.1:p.Lys165Gln
ENST00000647231.1:c.493A>C	ENSP00000496414.1:p.Lys165Gln
ENST00000343115.8:c.493A>C	ENSP00000342830.4:p.Lys165Gln
ENST00000405097.5:c.493A>C	ENSP00000384136.1:p.Lys165Gln
ENST00000528498.5:c.493A>C	ENSP00000432112.1:p.Lys165Gln
ENST00000528900.5:c.-82-10331A>C	ENSP00000433580.1:n.-82-10331A>C
ENST00000529774.1:n.45A>C
ENST00000530131.5:c.122A>C	ENSP00000432829.1:p.Lys41Thr
ENST00000530301.5:c.397A>C	ENSP00000436277.1:p.Lys133Gln
ENST00000530749.5:c.493A>C	ENSP00000437301.1:p.Lys165Gln
ENST00000534683.1:c.-51A>C	ENSP00000431560.1:n.-51A>C
ENST00000544551.5:c.85A>C	ENSP00000445826.1:p.Lys29Gln
NM_001260492.1:c.493A>C	NP_001247421.1:p.Lys165Gln
NM_001260493.1:c.493A>C	NP_001247422.1:p.Lys165Gln
NM_001260494.1:c.85A>C	NP_001247423.1:p.Lys29Gln
NM_001260495.1:c.-82-10331A>C	NP_001247424.1:n.-82-10331A>C
NM_001260496.1:c.397A>C	NP_001247425.1:p.Lys133Gln
NM_002906.3:c.493A>C	NP_002897.1:p.Lys165Gln
NM_001260492.2:c.493A>C	NP_001247421.1:p.Lys165Gln
NM_002906.4:c.493A>C MANE Select	NP_002897.1:p.Lys165Gln
NM_001260493.2:c.493A>C	NP_001247422.1:p.Lys165Gln
NM_001260494.2:c.85A>C	NP_001247423.1:p.Lys29Gln
NM_001260495.2:c.-82-10331A>C	NP_001247424.1:n.-82-10331A>C
NM_001260496.2:c.397A>C	NP_001247425.1:p.Lys133Gln