Canonical Allele Identifier: CA9787425
Gene: SSTR4 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.23036445T>A
GRCh37 chr20:g.23017082T>A
Revel Score:
ENST00000255008 (MANE Select) 0.110
gnomAD v2:
20:23017082 T / A
gnomAD v3:
20:23036445 T / A
gnomAD v4:
chr20-23036445-T-A
Joint Max Group AF 0.00001963 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001914 (NFE)
dbSNP:
2567608
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23036445T>A , CM000682.2:g.23036445T>A GRCh38
NC_000020.10:g.23017082T>A , CM000682.1:g.23017082T>A GRCh37
NC_000020.9:g.22965082T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000255008.5:c.962T>A MANE Select ENSP00000255008.3:p.Phe321Tyr
ENST00000255008.4:c.962T>A ENSP00000255008.3:p.Phe321Tyr
NM_001052.2:c.962T>A NP_001043.2:p.Phe321Tyr
XR_937364.1:n.801-1778T>A
XR_001754544.2:n.827-1778T>A
NM_001052.4:c.962T>A MANE Select NP_001043.2:p.Phe321Tyr
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