Canonical Allele Identifier: CA410148659
Gene: RUNX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.36164870C>G (hg19) chr21:g.34792573C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792573C>G , CM000683.2:g.34792573C>G GRCh38
NC_000021.8:g.36164870C>G , CM000683.1:g.36164870C>G GRCh37
NC_000021.7:g.35086740C>G NCBI36
NG_011402.2:g.1197139G>C , LRG_482:g.1197139G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.1005G>C MANE Select ENSP00000501943.1:p.Gln335His
ENST00000300305.7:c.1005G>C ENSP00000300305.3:p.Gln335His
ENST00000344691.8:c.924G>C ENSP00000340690.4:p.Gln308His
ENST00000399240.5:c.732G>C ENSP00000382184.1:p.Gln244His
ENST00000437180.5:c.1005G>C ENSP00000409227.1:p.Gln335His
ENST00000482318.5:c.*595G>C ENSP00000477067.1:n.*595G>C
NM_001001890.2:c.924G>C NP_001001890.1:p.Gln308His
NM_001754.4:c.1005G>C , LRG_482t1:c.1005G>C NP_001745.2:p.Gln335His
XM_005261068.3:c.969G>C XP_005261125.1:p.Gln323His
XM_005261069.3:c.813G>C XP_005261126.1:p.Gln271His
XM_011529766.1:c.1005G>C XP_011528068.1:p.Gln335His
XM_011529767.1:c.966G>C XP_011528069.1:p.Gln322His
XM_011529768.1:c.774G>C XP_011528070.1:p.Gln258His
XR_937576.1:n.4609G>C
XM_005261069.4:c.813G>C XP_005261126.1:p.Gln271His
XM_011529766.2:c.1005G>C XP_011528068.1:p.Gln335His
XM_011529767.2:c.966G>C XP_011528069.1:p.Gln322His
XM_011529768.2:c.774G>C XP_011528070.1:p.Gln258His
XM_017028487.1:c.852G>C XP_016883976.1:p.Gln284His
XR_937576.2:n.4656G>C
NM_001001890.3:c.924G>C NP_001001890.1:p.Gln308His
NM_001754.5:c.1005G>C MANE Select NP_001745.2:p.Gln335His
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