Canonical Allele Identifier: CA3060966
Community Standard Title: NM_018699.4(PRDM5):c.1722G>A (p.Gln574=)
Gene: PRDM5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.120710315C>T , CM000666.2:g.120710315C>T GRCh38
NC_000004.11:g.121631470C>T , CM000666.1:g.121631470C>T GRCh37
NC_000004.10:g.121850920C>T NCBI36
NG_031862.2:g.217544G>A

Transcript Alleles

HGVS Amino-acid Change
NM_018699.4:c.1722G>A MANE Select NP_061169.2:p.Gln574=
ENST00000264808.8:c.1722G>A MANE Select ENSP00000264808.3:p.Gln574=
NM_001300823.1:c.1629G>A NP_001287752.1:p.Gln543=
NM_001300823.2:c.1629G>A NP_001287752.1:p.Gln543=
NM_001300824.1:c.*37G>A NP_001287753.1:n.*37G>A
NM_001300824.2:c.*37G>A NP_001287753.1:n.*37G>A
NM_001379104.1:c.1755G>A NP_001366033.1:p.Gln585=
NM_001379106.1:c.1531-15040G>A NP_001366035.1:n.1531-15040G>A
NM_018699.3:c.1722G>A NP_061169.2:p.Gln574=
ENST00000264808.7:c.1722G>A ENSP00000264808.3:p.Gln574=
ENST00000428209.6:c.1629G>A ENSP00000404832.2:p.Gln543=
ENST00000505484.5:n.2225G>A
ENST00000506065.1:n.572G>A
ENST00000513741.1:n.97G>A
ENST00000515109.5:c.*37G>A ENSP00000422309.1:n.*37G>A
XM_011531562.1:c.1755G>A XP_011529864.1:p.Gln585=
XM_011531562.2:c.1755G>A XP_011529864.1:p.Gln585=
XM_011531563.1:c.1662G>A XP_011529865.1:p.Gln554=
XM_011531563.2:c.1662G>A XP_011529865.1:p.Gln554=
XM_011531564.1:c.1657-15040G>A XP_011529866.1:n.1657-15040G>A
XM_011531564.2:c.1657-15040G>A XP_011529866.1:n.1657-15040G>A
XM_011531565.1:c.1755G>A XP_011529867.1:p.Gln585=
XM_011531565.2:c.1755G>A XP_011529867.1:p.Gln585=
XM_011531566.1:c.1755G>A XP_011529868.1:p.Gln585=
XM_011531566.3:c.1755G>A XP_011529868.1:p.Gln585=
XM_011531567.1:c.*37G>A XP_011529869.1:n.*37G>A
XM_011531567.2:c.*37G>A XP_011529869.1:n.*37G>A
XM_011531568.1:c.*37G>A XP_011529870.1:n.*37G>A
XM_011531568.2:c.*37G>A XP_011529870.1:n.*37G>A
XM_011531569.1:c.*37G>A XP_011529871.1:n.*37G>A
XM_011531569.3:c.*37G>A XP_011529871.1:n.*37G>A
XM_011531570.1:c.1041G>A XP_011529872.1:p.Gln347=
XM_011531570.3:c.1041G>A XP_011529872.1:p.Gln347=
XM_017007668.2:c.1677G>A XP_016863157.1:p.Gln559=
XM_017007669.1:c.*37G>A XP_016863158.1:n.*37G>A
XM_017007670.1:c.*37G>A XP_016863159.1:n.*37G>A
XM_017007671.1:c.780G>A XP_016863160.1:p.Gln260=
XM_024453879.1:c.1008G>A XP_024309647.1:p.Gln336=