Canonical Allele Identifier: CA410203733
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs1319107369
gnomAD v2: 21-36259219-C-T
gnomAD v4: 21-34886922-C-T
MyVariant Identifiers: chr21:g.36259219C>T (hg19) chr21:g.34886922C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886922C>T , CM000683.2:g.34886922C>T GRCh38
NC_000021.8:g.36259219C>T , CM000683.1:g.36259219C>T GRCh37
NC_000021.7:g.35181089C>T NCBI36
NG_011402.2:g.1102790G>A , LRG_482:g.1102790G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.272G>A MANE Select ENSP00000501943.1:p.Arg91His
ENST00000300305.7:c.272G>A ENSP00000300305.3:p.Arg91His
ENST00000344691.8:c.191G>A ENSP00000340690.4:p.Arg64His
ENST00000358356.9:c.191G>A ENSP00000351123.5:p.Arg64His
ENST00000399237.6:c.236G>A ENSP00000382182.2:p.Arg79His
ENST00000399240.5:c.191G>A ENSP00000382184.1:p.Arg64His
ENST00000437180.5:c.272G>A ENSP00000409227.1:p.Arg91His
ENST00000455571.5:c.233G>A ENSP00000388189.1:p.Arg78His
ENST00000482318.5:c.59-6209G>A ENSP00000477067.1:n.59-6209G>A
NM_001001890.2:c.191G>A NP_001001890.1:p.Arg64His
NM_001122607.1:c.191G>A NP_001116079.1:p.Arg64His
NM_001754.4:c.272G>A , LRG_482t1:c.272G>A NP_001745.2:p.Arg91His
XM_005261068.3:c.236G>A XP_005261125.1:p.Arg79His
XM_005261069.3:c.272G>A XP_005261126.1:p.Arg91His
XM_011529766.1:c.272G>A XP_011528068.1:p.Arg91His
XM_011529767.1:c.233G>A XP_011528069.1:p.Arg78His
XM_011529768.1:c.233G>A XP_011528070.1:p.Arg78His
XM_011529770.1:c.272G>A XP_011528072.1:p.Arg91His
XR_937576.1:n.451G>A
XM_005261069.4:c.272G>A XP_005261126.1:p.Arg91His
XM_011529766.2:c.272G>A XP_011528068.1:p.Arg91His
XM_011529767.2:c.233G>A XP_011528069.1:p.Arg78His
XM_011529768.2:c.233G>A XP_011528070.1:p.Arg78His
XM_011529770.2:c.272G>A XP_011528072.1:p.Arg91His
XM_017028487.1:c.119G>A XP_016883976.1:p.Arg40His
XR_937576.2:n.498G>A
NM_001001890.3:c.191G>A NP_001001890.1:p.Arg64His
NM_001122607.2:c.191G>A NP_001116079.1:p.Arg64His
NM_001754.5:c.272G>A MANE Select NP_001745.2:p.Arg91His
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