Canonical Allele Identifier: CA10014586
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2418762
ClinVar RCV Id: RCV003121511 RCV003410261
dbSNP Id: rs748720882
ExAC: 21:36259348 C / T
gnomAD v2: 21-36259348-C-T
gnomAD v4: 21-34887051-C-T
MyVariant Identifiers: chr21:g.36259348C>T (hg19) chr21:g.34887051C>T (hg38)
ERepo: CA10014586/MONDO:0011071/008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34887051C>T , CM000683.2:g.34887051C>T GRCh38
NC_000021.8:g.36259348C>T , CM000683.1:g.36259348C>T GRCh37
NC_000021.7:g.35181218C>T NCBI36
NG_011402.2:g.1102661G>A , LRG_482:g.1102661G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.143G>A MANE Select ENSP00000501943.1:p.Ser48Asn
ENST00000300305.7:c.143G>A ENSP00000300305.3:p.Ser48Asn
ENST00000344691.8:c.62G>A ENSP00000340690.4:p.Ser21Asn
ENST00000358356.9:c.62G>A ENSP00000351123.5:p.Ser21Asn
ENST00000399237.6:c.107G>A ENSP00000382182.2:p.Ser36Asn
ENST00000399240.5:c.62G>A ENSP00000382184.1:p.Ser21Asn
ENST00000437180.5:c.143G>A ENSP00000409227.1:p.Ser48Asn
ENST00000455571.5:c.104G>A ENSP00000388189.1:p.Ser35Asn
ENST00000475045.6:c.143G>A ENSP00000477072.1:p.Ser48Asn
ENST00000482318.5:c.59-6338G>A ENSP00000477067.1:n.59-6338G>A
NM_001001890.2:c.62G>A NP_001001890.1:p.Ser21Asn
NM_001122607.1:c.62G>A NP_001116079.1:p.Ser21Asn
NM_001754.4:c.143G>A , LRG_482t1:c.143G>A NP_001745.2:p.Ser48Asn
XM_005261068.3:c.107G>A XP_005261125.1:p.Ser36Asn
XM_005261069.3:c.143G>A XP_005261126.1:p.Ser48Asn
XM_011529766.1:c.143G>A XP_011528068.1:p.Ser48Asn
XM_011529767.1:c.104G>A XP_011528069.1:p.Ser35Asn
XM_011529768.1:c.104G>A XP_011528070.1:p.Ser35Asn
XM_011529770.1:c.143G>A XP_011528072.1:p.Ser48Asn
XR_937576.1:n.322G>A
XM_005261069.4:c.143G>A XP_005261126.1:p.Ser48Asn
XM_011529766.2:c.143G>A XP_011528068.1:p.Ser48Asn
XM_011529767.2:c.104G>A XP_011528069.1:p.Ser35Asn
XM_011529768.2:c.104G>A XP_011528070.1:p.Ser35Asn
XM_011529770.2:c.143G>A XP_011528072.1:p.Ser48Asn
XM_017028487.1:c.-11G>A XP_016883976.1:n.-11G>A
XR_937576.2:n.369G>A
NM_001001890.3:c.62G>A NP_001001890.1:p.Ser21Asn
NM_001122607.2:c.62G>A NP_001116079.1:p.Ser21Asn
NM_001754.5:c.143G>A MANE Select NP_001745.2:p.Ser48Asn
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