Canonical Allele Identifier: CA14825639
Gene: SMOX HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.4121153C>T
GRCh37 chr20:g.4101800C>T
gnomAD v2:
20:4101800 C / T
gnomAD v3:
20:4121153 C / T
gnomAD v4:
chr20-4121153-C-T
Joint Max Group AF 0.77765327 (EAS)
Genomes Max Group AF 0.77765327 (EAS)
Exomes Max Group AF 0.44064241 (NFE)
dbSNP:
1741344
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.4121153C>T , CM000682.2:g.4121153C>T GRCh38
NC_000020.10:g.4101800C>T , CM000682.1:g.4101800C>T GRCh37
NC_000020.9:g.4049800C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000493223.1:n.174C>T
Search 100 bp 5'
Search 100 bp 3'