Canonical Allele Identifier: CA410203771
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs2146410214
MyVariant Identifiers: chr21:g.36259231C>G (hg19) chr21:g.34886934C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886934C>G , CM000683.2:g.34886934C>G GRCh38
NC_000021.8:g.36259231C>G , CM000683.1:g.36259231C>G GRCh37
NC_000021.7:g.35181101C>G NCBI36
NG_011402.2:g.1102778G>C , LRG_482:g.1102778G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.260G>C MANE Select ENSP00000501943.1:p.Gly87Ala
ENST00000300305.7:c.260G>C ENSP00000300305.3:p.Gly87Ala
ENST00000344691.8:c.179G>C ENSP00000340690.4:p.Gly60Ala
ENST00000358356.9:c.179G>C ENSP00000351123.5:p.Gly60Ala
ENST00000399237.6:c.224G>C ENSP00000382182.2:p.Gly75Ala
ENST00000399240.5:c.179G>C ENSP00000382184.1:p.Gly60Ala
ENST00000437180.5:c.260G>C ENSP00000409227.1:p.Gly87Ala
ENST00000455571.5:c.221G>C ENSP00000388189.1:p.Gly74Ala
ENST00000482318.5:c.59-6221G>C ENSP00000477067.1:n.59-6221G>C
NM_001001890.2:c.179G>C NP_001001890.1:p.Gly60Ala
NM_001122607.1:c.179G>C NP_001116079.1:p.Gly60Ala
NM_001754.4:c.260G>C , LRG_482t1:c.260G>C NP_001745.2:p.Gly87Ala
XM_005261068.3:c.224G>C XP_005261125.1:p.Gly75Ala
XM_005261069.3:c.260G>C XP_005261126.1:p.Gly87Ala
XM_011529766.1:c.260G>C XP_011528068.1:p.Gly87Ala
XM_011529767.1:c.221G>C XP_011528069.1:p.Gly74Ala
XM_011529768.1:c.221G>C XP_011528070.1:p.Gly74Ala
XM_011529770.1:c.260G>C XP_011528072.1:p.Gly87Ala
XR_937576.1:n.439G>C
XM_005261069.4:c.260G>C XP_005261126.1:p.Gly87Ala
XM_011529766.2:c.260G>C XP_011528068.1:p.Gly87Ala
XM_011529767.2:c.221G>C XP_011528069.1:p.Gly74Ala
XM_011529768.2:c.221G>C XP_011528070.1:p.Gly74Ala
XM_011529770.2:c.260G>C XP_011528072.1:p.Gly87Ala
XM_017028487.1:c.107G>C XP_016883976.1:p.Gly36Ala
XR_937576.2:n.486G>C
NM_001001890.3:c.179G>C NP_001001890.1:p.Gly60Ala
NM_001122607.2:c.179G>C NP_001116079.1:p.Gly60Ala
NM_001754.5:c.260G>C MANE Select NP_001745.2:p.Gly87Ala
Search 100 bp 5'
Search 100 bp 3'