Canonical Allele Identifier: CA382572404

Gene: RDX

Linked Data

• ClinVar Variation Id: 2038747
• ClinVar RCV Id: RCV002907703
• MyVariant Identifiers: chr11:g.110104132G>A (hg19) ; chr11:g.110233407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.110233407G>A , CM000673.2:g.110233407G>A	GRCh38
NC_000011.9:g.110104132G>A , CM000673.1:g.110104132G>A	GRCh37
NC_000011.8:g.109609342G>A	NCBI36
NG_023044.1:g.68306C>T
NG_023044.2:g.68306C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645312.1:c.60C>T
ENST00000645495.2:c.1417C>T MANE Select	ENSP00000496503.2:p.Pro473Ser
ENST00000645527.1:c.1417C>T	ENSP00000496121.1:p.Pro473Ser
ENST00000646663.1:c.1417C>T	ENSP00000494693.1:p.Pro473Ser
ENST00000647231.1:c.1417C>T	ENSP00000496414.1:p.Pro473Ser
ENST00000343115.8:c.1417C>T	ENSP00000342830.4:p.Pro473Ser
ENST00000405097.5:c.1417C>T	ENSP00000384136.1:p.Pro473Ser
ENST00000527537.5:n.646C>T
ENST00000528498.5:c.1417C>T	ENSP00000432112.1:p.Pro473Ser
ENST00000528900.5:c.376C>T	ENSP00000433580.1:p.Pro126Ser
ENST00000530085.2:n.427C>T
ENST00000530131.5:c.*887C>T	ENSP00000432829.1:n.*887C>T
ENST00000530301.5:c.405-1403C>T	ENSP00000436277.1:n.405-1403C>T
ENST00000530749.5:c.1417C>T	ENSP00000437301.1:p.Pro473Ser
ENST00000532461.5:n.532C>T
ENST00000533961.1:n.117C>T
ENST00000544551.5:c.1009C>T	ENSP00000445826.1:p.Pro337Ser
NM_001260492.1:c.1417C>T	NP_001247421.1:p.Pro473Ser
NM_001260493.1:c.1417C>T	NP_001247422.1:p.Pro473Ser
NM_001260494.1:c.1009C>T	NP_001247423.1:p.Pro337Ser
NM_001260495.1:c.376C>T	NP_001247424.1:p.Pro126Ser
NM_001260496.1:c.405-1403C>T	NP_001247425.1:n.405-1403C>T
NM_002906.3:c.1417C>T	NP_002897.1:p.Pro473Ser
NM_001260492.2:c.1417C>T	NP_001247421.1:p.Pro473Ser
NM_002906.4:c.1417C>T MANE Select	NP_002897.1:p.Pro473Ser
NM_001260493.2:c.1417C>T	NP_001247422.1:p.Pro473Ser
NM_001260494.2:c.1009C>T	NP_001247423.1:p.Pro337Ser
NM_001260495.2:c.376C>T	NP_001247424.1:p.Pro126Ser
NM_001260496.2:c.405-1403C>T	NP_001247425.1:n.405-1403C>T