Canonical Allele Identifier: CA14832053
Gene: TMEM239 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.2820155A>C
GRCh37 chr20:g.2800801A>C
gnomAD v2:
20:2800801 A / C
gnomAD v3:
20:2820155 A / C
gnomAD v4:
chr20-2820155-A-C
Joint Max Group AF 0.39335953 (AFR)
Genomes Max Group AF 0.39335953 (AFR)
Exomes Max Group AF 0.1231341 (NFE)
dbSNP:
7360412
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2820155A>C , CM000682.2:g.2820155A>C GRCh38
NC_000020.10:g.2800801A>C , CM000682.1:g.2800801A>C GRCh37
NC_000020.9:g.2748801A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361033.1:c.*3142A>C ENSP00000354312.1:n.*3142A>C
NM_001318207.1:c.*3142A>C NP_001305136.1:n.*3142A>C
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