Canonical Allele Identifier: CA512318746
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs1569079130
MyVariant Identifiers: chr21:g.36252954A>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880657A>G , CM000683.2:g.34880657A>G GRCh38
NC_000021.8:g.36252954A>G , CM000683.1:g.36252954A>G GRCh37
NC_000021.7:g.35174824A>G NCBI36
NG_011402.2:g.1109055T>C , LRG_482:g.1109055T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.408T>C MANE Select ENSP00000501943.1:p.Asn136=
ENST00000300305.7:c.408T>C ENSP00000300305.3:p.Asn136=
ENST00000344691.8:c.327T>C ENSP00000340690.4:p.Asn109=
ENST00000358356.9:c.327T>C ENSP00000351123.5:p.Asn109=
ENST00000399237.6:c.372T>C ENSP00000382182.2:p.Asn124=
ENST00000399240.5:c.327T>C ENSP00000382184.1:p.Asn109=
ENST00000437180.5:c.408T>C ENSP00000409227.1:p.Asn136=
ENST00000455571.5:c.369T>C ENSP00000388189.1:p.Asn123=
ENST00000482318.5:c.115T>C ENSP00000477067.1:p.Ter39Arg
NM_001001890.2:c.327T>C NP_001001890.1:p.Asn109=
NM_001122607.1:c.327T>C NP_001116079.1:p.Asn109=
NM_001754.4:c.408T>C , LRG_482t1:c.408T>C NP_001745.2:p.Asn136=
XM_005261068.3:c.372T>C XP_005261125.1:p.Asn124=
XM_005261069.3:c.408T>C XP_005261126.1:p.Asn136=
XM_011529766.1:c.408T>C XP_011528068.1:p.Asn136=
XM_011529767.1:c.369T>C XP_011528069.1:p.Asn123=
XM_011529768.1:c.369T>C XP_011528070.1:p.Asn123=
XM_011529770.1:c.408T>C XP_011528072.1:p.Asn136=
XR_937576.1:n.587T>C
XM_005261069.4:c.408T>C XP_005261126.1:p.Asn136=
XM_011529766.2:c.408T>C XP_011528068.1:p.Asn136=
XM_011529767.2:c.369T>C XP_011528069.1:p.Asn123=
XM_011529768.2:c.369T>C XP_011528070.1:p.Asn123=
XM_011529770.2:c.408T>C XP_011528072.1:p.Asn136=
XM_017028487.1:c.255T>C XP_016883976.1:p.Asn85=
XR_937576.2:n.634T>C
NM_001001890.3:c.327T>C NP_001001890.1:p.Asn109=
NM_001122607.2:c.327T>C NP_001116079.1:p.Asn109=
NM_001754.5:c.408T>C MANE Select NP_001745.2:p.Asn136=
Search 100 bp 5'
Search 100 bp 3'