Canonical Allele Identifier: CA11997353
Gene: PRDM9 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.23523239C>T
GRCh37 chr5:g.23523348C>T
gnomAD v2:
5:23523348 C / T
gnomAD v3:
5:23523239 C / T
gnomAD v4:
chr5-23523239-C-T
Joint Max Group AF 0.93467119 (NFE)
Genomes Max Group AF 0.92799039 (NFE)
Exomes Max Group AF 0.93475761 (NFE)
ClinVar RCV:
RCV001688115
ClinVar Variation:
1278507
dbSNP:
1874165
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.23523239C>T , CM000667.2:g.23523239C>T GRCh38
NC_000005.9:g.23523348C>T , CM000667.1:g.23523348C>T GRCh37
NC_000005.8:g.23559105C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000502755.6:c.883-52C>T ENSP00000425471.2:n.883-52C>T
ENST00000296682.4:c.883-52C>T MANE Select ENSP00000296682.4:n.883-52C>T
ENST00000296682.3:c.883-52C>T ENSP00000296682.3:n.883-52C>T
ENST00000635252.1:c.706-52C>T ENSP00000489227.1:n.706-52C>T
NM_020227.2:c.883-52C>T NP_064612.2:n.883-52C>T
NM_020227.3:c.883-52C>T NP_064612.2:n.883-52C>T
NM_001376900.1:c.883-52C>T NP_001363829.1:n.883-52C>T
NM_020227.4:c.883-52C>T MANE Select NP_064612.2:n.883-52C>T
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