Canonical Allele Identifier: CA410203827
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs1313711063
MyVariant Identifiers: chr21:g.36259252T>A (hg19) chr21:g.34886955T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886955T>A , CM000683.2:g.34886955T>A GRCh38
NC_000021.8:g.36259252T>A , CM000683.1:g.36259252T>A GRCh37
NC_000021.7:g.35181122T>A NCBI36
NG_011402.2:g.1102757A>T , LRG_482:g.1102757A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.239A>T MANE Select ENSP00000501943.1:p.Glu80Val
ENST00000300305.7:c.239A>T ENSP00000300305.3:p.Glu80Val
ENST00000344691.8:c.158A>T ENSP00000340690.4:p.Glu53Val
ENST00000358356.9:c.158A>T ENSP00000351123.5:p.Glu53Val
ENST00000399237.6:c.203A>T ENSP00000382182.2:p.Glu68Val
ENST00000399240.5:c.158A>T ENSP00000382184.1:p.Glu53Val
ENST00000437180.5:c.239A>T ENSP00000409227.1:p.Glu80Val
ENST00000455571.5:c.200A>T ENSP00000388189.1:p.Glu67Val
ENST00000482318.5:c.59-6242A>T ENSP00000477067.1:n.59-6242A>T
NM_001001890.2:c.158A>T NP_001001890.1:p.Glu53Val
NM_001122607.1:c.158A>T NP_001116079.1:p.Glu53Val
NM_001754.4:c.239A>T , LRG_482t1:c.239A>T NP_001745.2:p.Glu80Val
XM_005261068.3:c.203A>T XP_005261125.1:p.Glu68Val
XM_005261069.3:c.239A>T XP_005261126.1:p.Glu80Val
XM_011529766.1:c.239A>T XP_011528068.1:p.Glu80Val
XM_011529767.1:c.200A>T XP_011528069.1:p.Glu67Val
XM_011529768.1:c.200A>T XP_011528070.1:p.Glu67Val
XM_011529770.1:c.239A>T XP_011528072.1:p.Glu80Val
XR_937576.1:n.418A>T
XM_005261069.4:c.239A>T XP_005261126.1:p.Glu80Val
XM_011529766.2:c.239A>T XP_011528068.1:p.Glu80Val
XM_011529767.2:c.200A>T XP_011528069.1:p.Glu67Val
XM_011529768.2:c.200A>T XP_011528070.1:p.Glu67Val
XM_011529770.2:c.239A>T XP_011528072.1:p.Glu80Val
XM_017028487.1:c.86A>T XP_016883976.1:p.Glu29Val
XR_937576.2:n.465A>T
NM_001001890.3:c.158A>T NP_001001890.1:p.Glu53Val
NM_001122607.2:c.158A>T NP_001116079.1:p.Glu53Val
NM_001754.5:c.239A>T MANE Select NP_001745.2:p.Glu80Val
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