Canonical Allele Identifier: CA143972492
Gene: PRDM13 HGNC NCBI
ClinVar RCV:
RCV001351657
ClinVar Variation:
1047014
COSMIC:
COSM5720727
COSM5720728
dbSNP:
755948912
gnomAD v2:
6:100057177 G / A
gnomAD v3:
6:99609301 G / A
gnomAD v4:
chr6-99609301-G-A
Joint Max Group AF 0.00005028 (NFE)
Exomes Max Group AF 0.00005248 (NFE)
MyVariant.info:
GRCh38 chr6:g.99609301G>A
GRCh37 chr6:g.100057177G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.99609301G>A , CM000668.2:g.99609301G>A GRCh38
NC_000006.11:g.100057177G>A , CM000668.1:g.100057177G>A GRCh37
NC_000006.10:g.100163898G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369215.5:c.391G>A MANE Select ENSP00000358217.5:p.Glu131Lys
ENST00000369214.2:c.*53G>A ENSP00000358216.2:n.*53G>A
ENST00000369215.4:c.391G>A ENSP00000358217.4:p.Glu131Lys
NM_021620.3:c.391G>A NP_067633.2:p.Glu131Lys
NM_021620.4:c.391G>A MANE Select NP_067633.2:p.Glu131Lys
Search 100 bp 5'
Search 100 bp 3'