Canonical Allele Identifier: CA7916147

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.15061845C>T , CM000678.2:g.15061845C>T GRCh38
NC_000016.9:g.15155702C>T , CM000678.1:g.15155702C>T GRCh37
NC_000016.8:g.15063203C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000198767.11:c.1855G>A (RRN3) MANE Select ENSP00000198767.7:p.Val619Met
ENST00000198767.10:c.1855G>A (RRN3) ENSP00000198767.6:p.Val619Met
ENST00000327307.11:c.1756G>A (RRN3) ENSP00000318484.7:p.Val586Met
ENST00000429751.6:c.1765G>A (RRN3) ENSP00000402027.2:p.Val589Met
ENST00000535621.6:c.1399+31789C>T (PDXDC1) ENSP00000437835.2:n.1399+31789C>T
ENST00000563559.5:c.1855G>A (RRN3) ENSP00000454530.1:p.Val619Met
NM_001285449.1:c.1399+31789C>T (PDXDC1) NP_001272378.1:n.1399+31789C>T
NM_001301064.1:c.1765G>A (RRN3) NP_001287993.1:p.Val589Met
NM_018427.4:c.1855G>A (RRN3) NP_060897.3:p.Val619Met
XM_005255376.1:c.1219G>A (RRN3) XP_005255433.1:p.Val407Met
XM_005255377.3:c.1219G>A (RRN3) XP_005255434.1:p.Val407Met
XM_011522540.1:c.1243G>A (RRN3) XP_011520842.1:p.Val415Met
XM_011522541.1:c.1231G>A (RRN3) XP_011520843.1:p.Val411Met
XM_011522542.1:c.1231G>A (RRN3) XP_011520844.1:p.Val411Met
NM_001324020.1:c.1396+31789C>T (PDXDC1) NP_001310949.1:n.1396+31789C>T
NM_001324021.1:c.1318+31789C>T (PDXDC1) NP_001310950.1:n.1318+31789C>T
XM_005255376.2:c.1219G>A (RRN3) XP_005255433.1:p.Val407Met
XM_005255377.5:c.1219G>A (RRN3) XP_005255434.1:p.Val407Met
XM_011522540.3:c.1243G>A (RRN3) XP_011520842.1:p.Val415Met
XM_011522541.2:c.1231G>A (RRN3) XP_011520843.1:p.Val411Met
XM_017023065.1:c.1354+31789C>T (PDXDC1) XP_016878554.1:n.1354+31789C>T
XM_024450194.1:c.1354+31789C>T (PDXDC1) XP_024305962.1:n.1354+31789C>T
XM_024450195.1:c.1453+31789C>T (PDXDC1) XP_024305963.1:n.1453+31789C>T
XM_024450196.1:c.1426+31789C>T (PDXDC1) XP_024305964.1:n.1426+31789C>T
XM_024450197.1:c.1273+31789C>T (PDXDC1) XP_024305965.1:n.1273+31789C>T
NM_018427.5:c.1855G>A (RRN3) MANE Select NP_060897.3:p.Val619Met
NM_001285449.2:c.1399+31789C>T (PDXDC1) NP_001272378.1:n.1399+31789C>T
NM_001324020.2:c.1396+31789C>T (PDXDC1) NP_001310949.1:n.1396+31789C>T
NM_001324021.2:c.1318+31789C>T (PDXDC1) NP_001310950.1:n.1318+31789C>T