Canonical Allele Identifier: CA339064833
Gene: RUNX3 HGNC NCBI
RUNX3-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.24964519A>G
GRCh37 chr1:g.25291010A>G
Revel Score:
ENST00000399916 0.500
ENST00000338888 0.500
dbSNP:
6672420
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.24964519A>G , CM000663.2:g.24964519A>G GRCh38
NC_000001.10:g.25291010A>G , CM000663.1:g.25291010A>G GRCh37
NC_000001.9:g.25163597A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000338888.4:c.53T>C (RUNX3) ENSP00000343477.3:p.Ile18Thr
ENST00000338888.3:c.53T>C (RUNX3) ENSP00000343477.3:p.Ile18Thr
ENST00000399916.5:c.53T>C (RUNX3) ENSP00000382800.1:p.Ile18Thr
ENST00000479341.1:n.163T>C (RUNX3)
NM_001031680.2:c.53T>C (RUNX3) NP_001026850.1:p.Ile18Thr
XM_005246024.3:c.53T>C (RUNX3) XP_005246081.1:p.Ile18Thr
XM_011542351.1:c.53T>C (RUNX3) XP_011540653.1:p.Ile18Thr
NM_001320672.1:c.53T>C (RUNX3) NP_001307601.1:p.Ile18Thr
XM_005246024.4:c.53T>C (RUNX3) XP_005246081.1:p.Ile18Thr
XR_001737933.1:n.5504A>G (RUNX3-AS1)
XR_001737934.1:n.7801A>G (RUNX3-AS1)
XR_001737935.1:n.10807A>G (RUNX3-AS1)
XR_001737936.1:n.5093A>G (RUNX3-AS1)
XR_001737937.1:n.5214A>G (RUNX3-AS1)
XR_001737938.1:n.7246A>G (RUNX3-AS1)
XR_001737939.1:n.9990A>G (RUNX3-AS1)
XR_001737940.1:n.9922A>G (RUNX3-AS1)
XR_001737941.1:n.4070A>G (RUNX3-AS1)
XR_947088.2:n.5304A>G (RUNX3-AS1)
XR_947089.2:n.5158A>G (RUNX3-AS1)
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