Canonical Allele Identifier: CA512318737
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs779032088
MyVariant Identifiers: chr21:g.36252936A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880639A>T , CM000683.2:g.34880639A>T GRCh38
NC_000021.8:g.36252936A>T , CM000683.1:g.36252936A>T GRCh37
NC_000021.7:g.35174806A>T NCBI36
NG_011402.2:g.1109073T>A , LRG_482:g.1109073T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.426T>A MANE Select ENSP00000501943.1:p.Ala142=
ENST00000300305.7:c.426T>A ENSP00000300305.3:p.Ala142=
ENST00000344691.8:c.345T>A ENSP00000340690.4:p.Ala115=
ENST00000358356.9:c.345T>A ENSP00000351123.5:p.Ala115=
ENST00000399237.6:c.390T>A ENSP00000382182.2:p.Ala130=
ENST00000399240.5:c.345T>A ENSP00000382184.1:p.Ala115=
ENST00000437180.5:c.426T>A ENSP00000409227.1:p.Ala142=
ENST00000455571.5:c.387T>A ENSP00000388189.1:p.Ala129=
ENST00000482318.5:c.*16T>A ENSP00000477067.1:n.*16T>A
NM_001001890.2:c.345T>A NP_001001890.1:p.Ala115=
NM_001122607.1:c.345T>A NP_001116079.1:p.Ala115=
NM_001754.4:c.426T>A , LRG_482t1:c.426T>A NP_001745.2:p.Ala142=
XM_005261068.3:c.390T>A XP_005261125.1:p.Ala130=
XM_005261069.3:c.426T>A XP_005261126.1:p.Ala142=
XM_011529766.1:c.426T>A XP_011528068.1:p.Ala142=
XM_011529767.1:c.387T>A XP_011528069.1:p.Ala129=
XM_011529768.1:c.387T>A XP_011528070.1:p.Ala129=
XM_011529770.1:c.426T>A XP_011528072.1:p.Ala142=
XR_937576.1:n.605T>A
XM_005261069.4:c.426T>A XP_005261126.1:p.Ala142=
XM_011529766.2:c.426T>A XP_011528068.1:p.Ala142=
XM_011529767.2:c.387T>A XP_011528069.1:p.Ala129=
XM_011529768.2:c.387T>A XP_011528070.1:p.Ala129=
XM_011529770.2:c.426T>A XP_011528072.1:p.Ala142=
XM_017028487.1:c.273T>A XP_016883976.1:p.Ala91=
XR_937576.2:n.652T>A
NM_001001890.3:c.345T>A NP_001001890.1:p.Ala115=
NM_001122607.2:c.345T>A NP_001116079.1:p.Ala115=
NM_001754.5:c.426T>A MANE Select NP_001745.2:p.Ala142=
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