Canonical Allele Identifier: CA3214479
Gene: PRDM9 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.23509955C>T , CM000667.2:g.23509955C>T GRCh38
NC_000005.9:g.23510064C>T , CM000667.1:g.23510064C>T GRCh37
NC_000005.8:g.23545821C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000502755.6:c.229C>T ENSP00000425471.2:p.Arg77Ter
ENST00000296682.4:c.229C>T MANE Select ENSP00000296682.4:p.Arg77Ter
ENST00000296682.3:c.229C>T ENSP00000296682.3:p.Arg77Ter
ENST00000502755.5:c.229C>T ENSP00000425471.1:p.Arg77Ter
ENST00000635252.1:c.52C>T ENSP00000489227.1:p.Arg18Ter
NM_020227.2:c.229C>T NP_064612.2:p.Arg77Ter
NM_020227.3:c.229C>T NP_064612.2:p.Arg77Ter
NM_001376900.1:c.229C>T NP_001363829.1:p.Arg77Ter
NM_020227.4:c.229C>T MANE Select NP_064612.2:p.Arg77Ter