Canonical Allele Identifier: CA114791674
Gene: PRDM9 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.23528117C>T
GRCh37 chr5:g.23528226C>T
gnomAD v2:
5:23528226 C / T
gnomAD v3:
5:23528117 C / T
gnomAD v4:
chr5-23528117-C-T
Joint Max Group AF 0.25025218 (AFR)
Genomes Max Group AF 0.25125641 (AFR)
Exomes Max Group AF 0.2368911 (AFR)
ClinVar RCV:
RCV001537408
ClinVar Variation:
1180241
dbSNP:
2973631
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.23528117C>T , CM000667.2:g.23528117C>T GRCh38
NC_000005.9:g.23528226C>T , CM000667.1:g.23528226C>T GRCh37
NC_000005.8:g.23563983C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296682.3:c.*344C>T ENSP00000296682.3:n.*344C>T
NM_020227.2:c.*344C>T NP_064612.2:n.*344C>T
NM_020227.3:c.*344C>T NP_064612.2:n.*344C>T
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