Canonical Allele Identifier: CA994817
Gene: GSTM3 HGNC NCBI
GSTM5 HGNC NCBI
COSMIC:
COSM3750217
dbSNP:
7483
gnomAD v2:
1:110279701 C / T
gnomAD v3:
1:109737079 C / T
gnomAD v4:
chr1-109737079-C-T
Joint Max Group AF 0.74642614 (EAS)
Genomes Max Group AF 0.72468034 (EAS)
Exomes Max Group AF 0.74715282 (EAS)
MyVariant.info:
GRCh38 chr1:g.109737079C>T
GRCh37 chr1:g.110279701C>T
Revel Score:
ENST00000540225 0.009
ENST00000256594 0.009
ENST00000361066 (MANE Select) 0.009
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109737079C>T , CM000663.2:g.109737079C>T GRCh38
NC_000001.10:g.110279701C>T , CM000663.1:g.110279701C>T GRCh37
NC_000001.9:g.110081224C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361066.7:c.670G>A (GSTM3) MANE Select ENSP00000354357.2:p.Val224Ile
ENST00000256594.7:c.670G>A (GSTM3) ENSP00000256594.3:p.Val224Ile
ENST00000361066.6:c.670G>A (GSTM3) ENSP00000354357.2:p.Val224Ile
ENST00000429410.2:n.82+24731C>T (GSTM5)
ENST00000476321.5:n.638G>A (GSTM3)
ENST00000486823.5:n.634G>A (GSTM3)
ENST00000488824.1:n.1015G>A (GSTM3)
NM_000849.4:c.670G>A (GSTM3) NP_000840.2:p.Val224Ile
NR_024537.1:n.904G>A (GSTM3)
XM_011541296.1:c.889G>A (GSTM3) XP_011539598.1:p.Val297Ile
NM_000849.5:c.670G>A (GSTM3) MANE Select NP_000840.2:p.Val224Ile
NR_024537.2:n.904G>A (GSTM3)
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