Canonical Allele Identifier: CA410202480
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs2146360357
MyVariant Identifiers: chr21:g.36252861A>C (hg19) chr21:g.34880564A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880564A>C , CM000683.2:g.34880564A>C GRCh38
NC_000021.8:g.36252861A>C , CM000683.1:g.36252861A>C GRCh37
NC_000021.7:g.35174731A>C NCBI36
NG_011402.2:g.1109148T>G , LRG_482:g.1109148T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.501T>G MANE Select ENSP00000501943.1:p.Ser167Arg
ENST00000300305.7:c.501T>G ENSP00000300305.3:p.Ser167Arg
ENST00000344691.8:c.420T>G ENSP00000340690.4:p.Ser140Arg
ENST00000358356.9:c.420T>G ENSP00000351123.5:p.Ser140Arg
ENST00000399237.6:c.465T>G ENSP00000382182.2:p.Ser155Arg
ENST00000399240.5:c.420T>G ENSP00000382184.1:p.Ser140Arg
ENST00000437180.5:c.501T>G ENSP00000409227.1:p.Ser167Arg
ENST00000482318.5:c.*91T>G ENSP00000477067.1:n.*91T>G
NM_001001890.2:c.420T>G NP_001001890.1:p.Ser140Arg
NM_001122607.1:c.420T>G NP_001116079.1:p.Ser140Arg
NM_001754.4:c.501T>G , LRG_482t1:c.501T>G NP_001745.2:p.Ser167Arg
XM_005261068.3:c.465T>G XP_005261125.1:p.Ser155Arg
XM_005261069.3:c.501T>G XP_005261126.1:p.Ser167Arg
XM_011529766.1:c.501T>G XP_011528068.1:p.Ser167Arg
XM_011529767.1:c.462T>G XP_011528069.1:p.Ser154Arg
XM_011529768.1:c.462T>G XP_011528070.1:p.Ser154Arg
XM_011529770.1:c.501T>G XP_011528072.1:p.Ser167Arg
XR_937576.1:n.680T>G
XM_005261069.4:c.501T>G XP_005261126.1:p.Ser167Arg
XM_011529766.2:c.501T>G XP_011528068.1:p.Ser167Arg
XM_011529767.2:c.462T>G XP_011528069.1:p.Ser154Arg
XM_011529768.2:c.462T>G XP_011528070.1:p.Ser154Arg
XM_011529770.2:c.501T>G XP_011528072.1:p.Ser167Arg
XM_017028487.1:c.348T>G XP_016883976.1:p.Ser116Arg
XR_937576.2:n.727T>G
NM_001001890.3:c.420T>G NP_001001890.1:p.Ser140Arg
NM_001122607.2:c.420T>G NP_001116079.1:p.Ser140Arg
NM_001754.5:c.501T>G MANE Select NP_001745.2:p.Ser167Arg
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