Canonical Allele Identifier: CA14789544
Gene: PREX1 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.48726522G>T
GRCh37 chr20:g.47343059G>T
gnomAD v2:
20:47343059 G / T
gnomAD v3:
20:48726522 G / T
gnomAD v4:
chr20-48726522-G-T
Joint Max Group AF 0.2627969 (AMR)
Genomes Max Group AF 0.24983053 (SAS)
Exomes Max Group AF 0.27503254 (AMR)
dbSNP:
6063312
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.48726522G>T , CM000682.2:g.48726522G>T GRCh38
NC_000020.10:g.47343059G>T , CM000682.1:g.47343059G>T GRCh37
NC_000020.9:g.46776466G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000371941.4:c.520-131C>A MANE Select ENSP00000361009.3:n.520-131C>A
ENST00000371941.3:c.520-131C>A ENSP00000361009.3:n.520-131C>A
NM_020820.3:c.520-131C>A NP_065871.2:n.520-131C>A
NM_020820.4:c.520-131C>A MANE Select NP_065871.3:n.520-131C>A
Search 100 bp 5'
Search 100 bp 3'