Canonical Allele Identifier: CA512318983
Gene: RUNX1 HGNC NCBI

Linked Data

gnomAD v4: 21-34887068-C-G
MyVariant Identifiers: chr21:g.36259365C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34887068C>G , CM000683.2:g.34887068C>G GRCh38
NC_000021.8:g.36259365C>G , CM000683.1:g.36259365C>G GRCh37
NC_000021.7:g.35181235C>G NCBI36
NG_011402.2:g.1102644G>C , LRG_482:g.1102644G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.126G>C MANE Select ENSP00000501943.1:p.Pro42=
ENST00000300305.7:c.126G>C ENSP00000300305.3:p.Pro42=
ENST00000344691.8:c.45G>C ENSP00000340690.4:p.Pro15=
ENST00000358356.9:c.45G>C ENSP00000351123.5:p.Pro15=
ENST00000399237.6:c.90G>C ENSP00000382182.2:p.Pro30=
ENST00000399240.5:c.45G>C ENSP00000382184.1:p.Pro15=
ENST00000437180.5:c.126G>C ENSP00000409227.1:p.Pro42=
ENST00000455571.5:c.87G>C ENSP00000388189.1:p.Pro29=
ENST00000475045.6:c.126G>C ENSP00000477072.1:p.Pro42=
ENST00000482318.5:c.59-6355G>C ENSP00000477067.1:n.59-6355G>C
NM_001001890.2:c.45G>C NP_001001890.1:p.Pro15=
NM_001122607.1:c.45G>C NP_001116079.1:p.Pro15=
NM_001754.4:c.126G>C , LRG_482t1:c.126G>C NP_001745.2:p.Pro42=
XM_005261068.3:c.90G>C XP_005261125.1:p.Pro30=
XM_005261069.3:c.126G>C XP_005261126.1:p.Pro42=
XM_011529766.1:c.126G>C XP_011528068.1:p.Pro42=
XM_011529767.1:c.87G>C XP_011528069.1:p.Pro29=
XM_011529768.1:c.87G>C XP_011528070.1:p.Pro29=
XM_011529770.1:c.126G>C XP_011528072.1:p.Pro42=
XR_937576.1:n.305G>C
XM_005261069.4:c.126G>C XP_005261126.1:p.Pro42=
XM_011529766.2:c.126G>C XP_011528068.1:p.Pro42=
XM_011529767.2:c.87G>C XP_011528069.1:p.Pro29=
XM_011529768.2:c.87G>C XP_011528070.1:p.Pro29=
XM_011529770.2:c.126G>C XP_011528072.1:p.Pro42=
XM_017028487.1:c.-28G>C XP_016883976.1:n.-28G>C
XR_937576.2:n.352G>C
NM_001001890.3:c.45G>C NP_001001890.1:p.Pro15=
NM_001122607.2:c.45G>C NP_001116079.1:p.Pro15=
NM_001754.5:c.126G>C MANE Select NP_001745.2:p.Pro42=
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