Canonical Allele Identifier: CA14374194
Gene: TOP3A HGNC NCBI
COSMIC:
COSN6654229 (not active)
MyVariant.info:
GRCh38 chr17:g.18271367G>A
GRCh37 chr17:g.18174681G>A
gnomAD v2:
17:18174681 G / A
gnomAD v3:
17:18271367 G / A
gnomAD v4:
chr17-18271367-G-A
Joint Max Group AF 0.34163481 (AFR)
Genomes Max Group AF 0.34163481 (AFR)
Exomes Max Group AF 0.23306085 (NFE)
dbSNP:
12945597
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18271367G>A , CM000679.2:g.18271367G>A GRCh38
NC_000017.10:g.18174681G>A , CM000679.1:g.18174681G>A GRCh37
NC_000017.9:g.18115406G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011524001.2:c.*3435C>T XP_011522303.1:n.*3435C>T
XM_024450903.1:c.*3435C>T XP_024306671.1:n.*3435C>T
XR_001752601.2:n.6716C>T
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