Canonical Allele Identifier: CA410202663
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs2146362666
MyVariant Identifiers: chr21:g.36252949T>A (hg19) chr21:g.34880652T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880652T>A , CM000683.2:g.34880652T>A GRCh38
NC_000021.8:g.36252949T>A , CM000683.1:g.36252949T>A GRCh37
NC_000021.7:g.35174819T>A NCBI36
NG_011402.2:g.1109060A>T , LRG_482:g.1109060A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.413A>T MANE Select ENSP00000501943.1:p.Glu138Val
ENST00000300305.7:c.413A>T ENSP00000300305.3:p.Glu138Val
ENST00000344691.8:c.332A>T ENSP00000340690.4:p.Glu111Val
ENST00000358356.9:c.332A>T ENSP00000351123.5:p.Glu111Val
ENST00000399237.6:c.377A>T ENSP00000382182.2:p.Glu126Val
ENST00000399240.5:c.332A>T ENSP00000382184.1:p.Glu111Val
ENST00000437180.5:c.413A>T ENSP00000409227.1:p.Glu138Val
ENST00000455571.5:c.374A>T ENSP00000388189.1:p.Glu125Val
ENST00000482318.5:c.*3A>T ENSP00000477067.1:n.*3A>T
NM_001001890.2:c.332A>T NP_001001890.1:p.Glu111Val
NM_001122607.1:c.332A>T NP_001116079.1:p.Glu111Val
NM_001754.4:c.413A>T , LRG_482t1:c.413A>T NP_001745.2:p.Glu138Val
XM_005261068.3:c.377A>T XP_005261125.1:p.Glu126Val
XM_005261069.3:c.413A>T XP_005261126.1:p.Glu138Val
XM_011529766.1:c.413A>T XP_011528068.1:p.Glu138Val
XM_011529767.1:c.374A>T XP_011528069.1:p.Glu125Val
XM_011529768.1:c.374A>T XP_011528070.1:p.Glu125Val
XM_011529770.1:c.413A>T XP_011528072.1:p.Glu138Val
XR_937576.1:n.592A>T
XM_005261069.4:c.413A>T XP_005261126.1:p.Glu138Val
XM_011529766.2:c.413A>T XP_011528068.1:p.Glu138Val
XM_011529767.2:c.374A>T XP_011528069.1:p.Glu125Val
XM_011529768.2:c.374A>T XP_011528070.1:p.Glu125Val
XM_011529770.2:c.413A>T XP_011528072.1:p.Glu138Val
XM_017028487.1:c.260A>T XP_016883976.1:p.Glu87Val
XR_937576.2:n.639A>T
NM_001001890.3:c.332A>T NP_001001890.1:p.Glu111Val
NM_001122607.2:c.332A>T NP_001116079.1:p.Glu111Val
NM_001754.5:c.413A>T MANE Select NP_001745.2:p.Glu138Val
Search 100 bp 5'
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