Canonical Allele Identifier: CA6270334
Community Standard Title: NM_002906.4(RDX):c.413A>G (p.Asn138Ser)
Gene: RDX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.110264014T>C , CM000673.2:g.110264014T>C GRCh38
NC_000011.9:g.110134739T>C , CM000673.1:g.110134739T>C GRCh37
NC_000011.8:g.109639949T>C NCBI36
NG_023044.1:g.37699A>G
NG_023044.2:g.37699A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002906.4:c.413A>G MANE Select NP_002897.1:p.Asn138Ser
ENST00000645495.2:c.413A>G MANE Select ENSP00000496503.2:p.Asn138Ser
NM_001260492.1:c.413A>G NP_001247421.1:p.Asn138Ser
NM_001260492.2:c.413A>G NP_001247421.1:p.Asn138Ser
NM_001260493.1:c.413A>G NP_001247422.1:p.Asn138Ser
NM_001260493.2:c.413A>G NP_001247422.1:p.Asn138Ser
NM_001260494.1:c.60-5825A>G NP_001247423.1:n.60-5825A>G
NM_001260494.2:c.60-5825A>G NP_001247423.1:n.60-5825A>G
NM_001260495.1:c.-83+15667A>G NP_001247424.1:n.-83+15667A>G
NM_001260495.2:c.-83+15667A>G NP_001247424.1:n.-83+15667A>G
NM_001260496.1:c.317A>G NP_001247425.1:p.Asn106Ser
NM_001260496.2:c.317A>G NP_001247425.1:p.Asn106Ser
NM_002906.3:c.413A>G NP_002897.1:p.Asn138Ser
ENST00000343115.8:c.413A>G ENSP00000342830.4:p.Asn138Ser
ENST00000405097.5:c.413A>G ENSP00000384136.1:p.Asn138Ser
ENST00000528498.5:c.413A>G ENSP00000432112.1:p.Asn138Ser
ENST00000528556.5:c.*401A>G ENSP00000434881.1:n.*401A>G
ENST00000528900.5:c.-83+15667A>G ENSP00000433580.1:n.-83+15667A>G
ENST00000530131.5:c.97-5825A>G ENSP00000432829.1:n.97-5825A>G
ENST00000530301.5:c.317A>G ENSP00000436277.1:p.Asn106Ser
ENST00000530749.5:c.413A>G ENSP00000437301.1:p.Asn138Ser
ENST00000532118.5:c.380A>G ENSP00000437140.1:p.Asn127Ser
ENST00000534683.1:c.-131A>G ENSP00000431560.1:n.-131A>G
ENST00000544551.5:c.60-5825A>G ENSP00000445826.1:n.60-5825A>G
ENST00000642511.1:c.267A>G
ENST00000645527.1:c.413A>G ENSP00000496121.1:p.Asn138Ser
ENST00000646663.1:c.413A>G ENSP00000494693.1:p.Asn138Ser
ENST00000647231.1:c.413A>G ENSP00000496414.1:p.Asn138Ser