Canonical Allele Identifier: CA637689131
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs1289805787
gnomAD v2: 21-36162162-T-A
gnomAD v3: 21-34789865-T-A
gnomAD v4: 21-34789865-T-A
MyVariant Identifiers: chr21:g.36162162T>A (hg19) chr21:g.34789865T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34789865T>A , CM000683.2:g.34789865T>A GRCh38
NC_000021.8:g.36162162T>A , CM000683.1:g.36162162T>A GRCh37
NC_000021.7:g.35084032T>A NCBI36
NG_011402.2:g.1199847A>T , LRG_482:g.1199847A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.*2270A>T MANE Select ENSP00000501943.1:n.*2270A>T
ENST00000300305.7:c.*2270A>T ENSP00000300305.3:n.*2270A>T
ENST00000344691.8:c.*2270A>T ENSP00000340690.4:n.*2270A>T
ENST00000437180.5:c.*2270A>T ENSP00000409227.1:n.*2270A>T
NM_001001890.2:c.*2270A>T NP_001001890.1:n.*2270A>T
NM_001754.4:c.*2270A>T , LRG_482t1:c.*2270A>T NP_001745.2:n.*2270A>T
XM_005261068.3:c.*2270A>T XP_005261125.1:n.*2270A>T
XM_005261069.3:c.*2270A>T XP_005261126.1:n.*2270A>T
XM_011529766.1:c.*2270A>T XP_011528068.1:n.*2270A>T
XM_011529767.1:c.*2270A>T XP_011528069.1:n.*2270A>T
XM_011529768.1:c.*2270A>T XP_011528070.1:n.*2270A>T
XM_005261069.4:c.*2270A>T XP_005261126.1:n.*2270A>T
XM_011529766.2:c.*2270A>T XP_011528068.1:n.*2270A>T
XM_011529767.2:c.*2270A>T XP_011528069.1:n.*2270A>T
XM_011529768.2:c.*2270A>T XP_011528070.1:n.*2270A>T
XM_017028487.1:c.*2270A>T XP_016883976.1:n.*2270A>T
NM_001001890.3:c.*2270A>T NP_001001890.1:n.*2270A>T
NM_001754.5:c.*2270A>T MANE Select NP_001745.2:n.*2270A>T
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