Canonical Allele Identifier: CA410203621
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs2146409210
MyVariant Identifiers: chr21:g.36259196A>G (hg19) chr21:g.34886899A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886899A>G , CM000683.2:g.34886899A>G GRCh38
NC_000021.8:g.36259196A>G , CM000683.1:g.36259196A>G GRCh37
NC_000021.7:g.35181066A>G NCBI36
NG_011402.2:g.1102813T>C , LRG_482:g.1102813T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.295T>C MANE Select ENSP00000501943.1:p.Cys99Arg
ENST00000300305.7:c.295T>C ENSP00000300305.3:p.Cys99Arg
ENST00000344691.8:c.214T>C ENSP00000340690.4:p.Cys72Arg
ENST00000358356.9:c.214T>C ENSP00000351123.5:p.Cys72Arg
ENST00000399237.6:c.259T>C ENSP00000382182.2:p.Cys87Arg
ENST00000399240.5:c.214T>C ENSP00000382184.1:p.Cys72Arg
ENST00000437180.5:c.295T>C ENSP00000409227.1:p.Cys99Arg
ENST00000455571.5:c.256T>C ENSP00000388189.1:p.Cys86Arg
ENST00000482318.5:c.59-6186T>C ENSP00000477067.1:n.59-6186T>C
NM_001001890.2:c.214T>C NP_001001890.1:p.Cys72Arg
NM_001122607.1:c.214T>C NP_001116079.1:p.Cys72Arg
NM_001754.4:c.295T>C , LRG_482t1:c.295T>C NP_001745.2:p.Cys99Arg
XM_005261068.3:c.259T>C XP_005261125.1:p.Cys87Arg
XM_005261069.3:c.295T>C XP_005261126.1:p.Cys99Arg
XM_011529766.1:c.295T>C XP_011528068.1:p.Cys99Arg
XM_011529767.1:c.256T>C XP_011528069.1:p.Cys86Arg
XM_011529768.1:c.256T>C XP_011528070.1:p.Cys86Arg
XM_011529770.1:c.295T>C XP_011528072.1:p.Cys99Arg
XR_937576.1:n.474T>C
XM_005261069.4:c.295T>C XP_005261126.1:p.Cys99Arg
XM_011529766.2:c.295T>C XP_011528068.1:p.Cys99Arg
XM_011529767.2:c.256T>C XP_011528069.1:p.Cys86Arg
XM_011529768.2:c.256T>C XP_011528070.1:p.Cys86Arg
XM_011529770.2:c.295T>C XP_011528072.1:p.Cys99Arg
XM_017028487.1:c.142T>C XP_016883976.1:p.Cys48Arg
XR_937576.2:n.521T>C
NM_001001890.3:c.214T>C NP_001001890.1:p.Cys72Arg
NM_001122607.2:c.214T>C NP_001116079.1:p.Cys72Arg
NM_001754.5:c.295T>C MANE Select NP_001745.2:p.Cys99Arg
Search 100 bp 5'
Search 100 bp 3'