Canonical Allele Identifier: CA1157671
Gene: TMEM79 HGNC NCBI
SMG5 HGNC NCBI
COSMIC:
COSM3750418 (not active)
MyVariant.info:
GRCh38 chr1:g.156285665G>A
GRCh37 chr1:g.156255456G>A
Revel Score:
ENST00000295694 0.028
ENST00000405535 (MANE Select) 0.028
gnomAD v2:
1:156255456 G / A
gnomAD v3:
1:156285665 G / A
gnomAD v4:
chr1-156285665-G-A
Joint Max Group AF 0.29031011 (NFE)
Genomes Max Group AF 0.29027917 (NFE)
Exomes Max Group AF 0.29012863 (NFE)
dbSNP:
6684514
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156285665G>A , CM000663.2:g.156285665G>A GRCh38
NC_000001.10:g.156255456G>A , CM000663.1:g.156255456G>A GRCh37
NC_000001.9:g.154522080G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000405535.3:c.439G>A (TMEM79) MANE Select ENSP00000384748.2:p.Val147Met
ENST00000295694.9:c.439G>A (TMEM79) ENSP00000295694.5:p.Val147Met
ENST00000357501.6:c.41+398G>A (TMEM79) ENSP00000350100.2:n.41+398G>A
ENST00000405535.2:c.439G>A (TMEM79) ENSP00000384748.2:p.Val147Met
ENST00000456810.1:c.41+398G>A (TMEM79) ENSP00000394736.1:n.41+398G>A
ENST00000463670.5:n.356G>A (TMEM79)
ENST00000495881.1:n.575G>A (TMEM79)
NM_032323.2:c.439G>A (TMEM79) NP_115699.1:p.Val147Met
NR_026678.1:n.635G>A (TMEM79)
NM_001323617.1:c.-125+968C>T (SMG5) NP_001310546.1:n.-125+968C>T
NM_032323.3:c.439G>A (TMEM79) MANE Select NP_115699.1:p.Val147Met
NM_001323617.2:c.-125+968C>T (SMG5) NP_001310546.1:n.-125+968C>T
NR_026678.2:n.616G>A (TMEM79)
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