Canonical Allele Identifier: CA10617862
Community Standard Title: NM_018699.4(PRDM5):c.*120T>C
Gene: PRDM5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.120694991A>G , CM000666.2:g.120694991A>G GRCh38
NC_000004.11:g.121616146A>G , CM000666.1:g.121616146A>G GRCh37
NC_000004.10:g.121835596A>G NCBI36
NG_031862.2:g.232868T>C

Transcript Alleles

HGVS Amino-acid Change
NM_018699.4:c.*120T>C MANE Select NP_061169.2:n.*120T>C
ENST00000264808.8:c.*120T>C MANE Select ENSP00000264808.3:n.*120T>C
NM_001300823.1:c.*120T>C NP_001287752.1:n.*120T>C
NM_001300823.2:c.*120T>C NP_001287752.1:n.*120T>C
NM_001300824.1:c.*328T>C NP_001287753.1:n.*328T>C
NM_001300824.2:c.*328T>C NP_001287753.1:n.*328T>C
NM_001379104.1:c.*120T>C NP_001366033.1:n.*120T>C
NM_001379106.1:c.*120T>C NP_001366035.1:n.*120T>C
NM_018699.3:c.*120T>C NP_061169.2:n.*120T>C
ENST00000264808.7:c.*120T>C ENSP00000264808.3:n.*120T>C
ENST00000428209.6:c.*120T>C ENSP00000404832.2:n.*120T>C
ENST00000513741.1:n.104-9966T>C
ENST00000515109.5:c.*328T>C ENSP00000422309.1:n.*328T>C
XM_011531562.1:c.*120T>C XP_011529864.1:n.*120T>C
XM_011531562.2:c.*120T>C XP_011529864.1:n.*120T>C
XM_011531563.1:c.*120T>C XP_011529865.1:n.*120T>C
XM_011531563.2:c.*120T>C XP_011529865.1:n.*120T>C
XM_011531564.1:c.*120T>C XP_011529866.1:n.*120T>C
XM_011531564.2:c.*120T>C XP_011529866.1:n.*120T>C
XM_011531566.1:c.1762-9966T>C XP_011529868.1:n.1762-9966T>C
XM_011531566.3:c.1762-9966T>C XP_011529868.1:n.1762-9966T>C
XM_011531569.1:c.*44-9966T>C XP_011529871.1:n.*44-9966T>C
XM_011531569.3:c.*44-9966T>C XP_011529871.1:n.*44-9966T>C
XM_011531570.1:c.*120T>C XP_011529872.1:n.*120T>C
XM_011531570.3:c.*120T>C XP_011529872.1:n.*120T>C
XM_017007668.2:c.*120T>C XP_016863157.1:n.*120T>C
XM_017007669.1:c.*328T>C XP_016863158.1:n.*328T>C
XM_017007671.1:c.*120T>C XP_016863160.1:n.*120T>C
XM_024453879.1:c.*120T>C XP_024309647.1:n.*120T>C