Canonical Allele Identifier: CA129678
Community Standard Title: NM_018699.4(PRDM5):c.1768C>T (p.Arg590Ter)
Gene: PRDM5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.120695236G>A , CM000666.2:g.120695236G>A GRCh38
NC_000004.11:g.121616391G>A , CM000666.1:g.121616391G>A GRCh37
NC_000004.10:g.121835841G>A NCBI36
NG_031862.2:g.232623C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018699.4:c.1768C>T MANE Select NP_061169.2:p.Arg590Ter
ENST00000264808.8:c.1768C>T MANE Select ENSP00000264808.3:p.Arg590Ter
NM_001300823.1:c.1675C>T NP_001287752.1:p.Arg559Ter
NM_001300823.2:c.1675C>T NP_001287752.1:p.Arg559Ter
NM_001300824.1:c.*83C>T NP_001287753.1:n.*83C>T
NM_001300824.2:c.*83C>T NP_001287753.1:n.*83C>T
NM_001379104.1:c.1801C>T NP_001366033.1:p.Arg601Ter
NM_001379106.1:c.1570C>T NP_001366035.1:p.Arg524Ter
NM_018699.3:c.1768C>T NP_061169.2:p.Arg590Ter
ENST00000264808.7:c.1768C>T ENSP00000264808.3:p.Arg590Ter
ENST00000428209.6:c.1675C>T ENSP00000404832.2:p.Arg559Ter
ENST00000505484.5:n.2271C>T
ENST00000506065.1:n.618C>T
ENST00000513741.1:n.104-10211C>T
ENST00000515109.5:c.*83C>T ENSP00000422309.1:n.*83C>T
XM_011531562.1:c.1801C>T XP_011529864.1:p.Arg601Ter
XM_011531562.2:c.1801C>T XP_011529864.1:p.Arg601Ter
XM_011531563.1:c.1708C>T XP_011529865.1:p.Arg570Ter
XM_011531563.2:c.1708C>T XP_011529865.1:p.Arg570Ter
XM_011531564.1:c.1696C>T XP_011529866.1:p.Arg566Ter
XM_011531564.2:c.1696C>T XP_011529866.1:p.Arg566Ter
XM_011531566.1:c.1762-10211C>T XP_011529868.1:n.1762-10211C>T
XM_011531566.3:c.1762-10211C>T XP_011529868.1:n.1762-10211C>T
XM_011531567.1:c.*83C>T XP_011529869.1:n.*83C>T
XM_011531567.2:c.*83C>T XP_011529869.1:n.*83C>T
XM_011531569.1:c.*44-10211C>T XP_011529871.1:n.*44-10211C>T
XM_011531569.3:c.*44-10211C>T XP_011529871.1:n.*44-10211C>T
XM_011531570.1:c.1087C>T XP_011529872.1:p.Arg363Ter
XM_011531570.3:c.1087C>T XP_011529872.1:p.Arg363Ter
XM_017007668.2:c.1723C>T XP_016863157.1:p.Arg575Ter
XM_017007669.1:c.*83C>T XP_016863158.1:n.*83C>T
XM_017007671.1:c.826C>T XP_016863160.1:p.Arg276Ter
XM_024453879.1:c.1054C>T XP_024309647.1:p.Arg352Ter