Canonical Allele Identifier: CA358210384
Community Standard Title: NM_018699.4(PRDM5):c.1030G>T (p.Glu344Ter)
Gene: PRDM5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.120799661C>A , CM000666.2:g.120799661C>A GRCh38
NC_000004.11:g.121720816C>A , CM000666.1:g.121720816C>A GRCh37
NC_000004.10:g.121940266C>A NCBI36
NG_031862.2:g.128198G>T

Transcript Alleles

HGVS Amino-acid Change
NM_018699.4:c.1030G>T MANE Select NP_061169.2:p.Glu344Ter
ENST00000264808.8:c.1030G>T MANE Select ENSP00000264808.3:p.Glu344Ter
NM_001300823.1:c.937G>T NP_001287752.1:p.Glu313Ter
NM_001300823.2:c.937G>T NP_001287752.1:p.Glu313Ter
NM_001300824.1:c.937G>T NP_001287753.1:p.Glu313Ter
NM_001300824.2:c.937G>T NP_001287753.1:p.Glu313Ter
NM_001379104.1:c.1030G>T NP_001366033.1:p.Asp344Tyr
NM_001379106.1:c.937G>T NP_001366035.1:p.Glu313Ter
NM_018699.3:c.1030G>T NP_061169.2:p.Glu344Ter
ENST00000264808.7:c.1030G>T ENSP00000264808.3:p.Glu344Ter
ENST00000428209.6:c.937G>T ENSP00000404832.2:p.Glu313Ter
ENST00000502409.1:c.825G>T
ENST00000503661.5:n.621G>T
ENST00000505484.5:n.1360G>T
ENST00000515109.5:c.937G>T ENSP00000422309.1:p.Glu313Ter
XM_005262708.2:c.1030G>T XP_005262765.1:p.Asp344Tyr
XM_005262708.3:c.1030G>T XP_005262765.1:p.Asp344Tyr
XM_011531562.1:c.1030G>T XP_011529864.1:p.Asp344Tyr
XM_011531562.2:c.1030G>T XP_011529864.1:p.Asp344Tyr
XM_011531563.1:c.937G>T XP_011529865.1:p.Asp313Tyr
XM_011531563.2:c.937G>T XP_011529865.1:p.Asp313Tyr
XM_011531564.1:c.1030G>T XP_011529866.1:p.Asp344Tyr
XM_011531564.2:c.1030G>T XP_011529866.1:p.Asp344Tyr
XM_011531565.1:c.1030G>T XP_011529867.1:p.Asp344Tyr
XM_011531565.2:c.1030G>T XP_011529867.1:p.Asp344Tyr
XM_011531566.1:c.1030G>T XP_011529868.1:p.Asp344Tyr
XM_011531566.3:c.1030G>T XP_011529868.1:p.Asp344Tyr
XM_011531567.1:c.1030G>T XP_011529869.1:p.Asp344Tyr
XM_011531567.2:c.1030G>T XP_011529869.1:p.Asp344Tyr
XM_011531568.1:c.1030G>T XP_011529870.1:p.Asp344Tyr
XM_011531568.2:c.1030G>T XP_011529870.1:p.Asp344Tyr
XM_011531569.1:c.1030G>T XP_011529871.1:p.Asp344Tyr
XM_011531569.3:c.1030G>T XP_011529871.1:p.Asp344Tyr
XM_011531570.1:c.316G>T XP_011529872.1:p.Asp106Tyr
XM_011531570.3:c.316G>T XP_011529872.1:p.Asp106Tyr
XM_017007668.2:c.952G>T XP_016863157.1:p.Asp318Tyr
XM_017007669.1:c.1030G>T XP_016863158.1:p.Glu344Ter
XM_017007670.1:c.1030G>T XP_016863159.1:p.Glu344Ter
XM_017007671.1:c.55G>T XP_016863160.1:p.Asp19Tyr
XM_024453879.1:c.316G>T XP_024309647.1:p.Glu106Ter
XR_938677.1:n.1271G>T
XR_938677.3:n.1271G>T
XR_938678.1:n.1271G>T
XR_938679.1:n.1271G>T
XR_938680.1:n.1271G>T
XR_938680.2:n.1271G>T