Canonical Allele Identifier: CA410203864
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs2058001847
MyVariant Identifiers: chr21:g.36259268C>T (hg19) chr21:g.34886971C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886971C>T , CM000683.2:g.34886971C>T GRCh38
NC_000021.8:g.36259268C>T , CM000683.1:g.36259268C>T GRCh37
NC_000021.7:g.35181138C>T NCBI36
NG_011402.2:g.1102741G>A , LRG_482:g.1102741G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.223G>A MANE Select ENSP00000501943.1:p.Asp75Asn
ENST00000300305.7:c.223G>A ENSP00000300305.3:p.Asp75Asn
ENST00000344691.8:c.142G>A ENSP00000340690.4:p.Asp48Asn
ENST00000358356.9:c.142G>A ENSP00000351123.5:p.Asp48Asn
ENST00000399237.6:c.187G>A ENSP00000382182.2:p.Asp63Asn
ENST00000399240.5:c.142G>A ENSP00000382184.1:p.Asp48Asn
ENST00000437180.5:c.223G>A ENSP00000409227.1:p.Asp75Asn
ENST00000455571.5:c.184G>A ENSP00000388189.1:p.Asp62Asn
ENST00000482318.5:c.59-6258G>A ENSP00000477067.1:n.59-6258G>A
NM_001001890.2:c.142G>A NP_001001890.1:p.Asp48Asn
NM_001122607.1:c.142G>A NP_001116079.1:p.Asp48Asn
NM_001754.4:c.223G>A , LRG_482t1:c.223G>A NP_001745.2:p.Asp75Asn
XM_005261068.3:c.187G>A XP_005261125.1:p.Asp63Asn
XM_005261069.3:c.223G>A XP_005261126.1:p.Asp75Asn
XM_011529766.1:c.223G>A XP_011528068.1:p.Asp75Asn
XM_011529767.1:c.184G>A XP_011528069.1:p.Asp62Asn
XM_011529768.1:c.184G>A XP_011528070.1:p.Asp62Asn
XM_011529770.1:c.223G>A XP_011528072.1:p.Asp75Asn
XR_937576.1:n.402G>A
XM_005261069.4:c.223G>A XP_005261126.1:p.Asp75Asn
XM_011529766.2:c.223G>A XP_011528068.1:p.Asp75Asn
XM_011529767.2:c.184G>A XP_011528069.1:p.Asp62Asn
XM_011529768.2:c.184G>A XP_011528070.1:p.Asp62Asn
XM_011529770.2:c.223G>A XP_011528072.1:p.Asp75Asn
XM_017028487.1:c.70G>A XP_016883976.1:p.Asp24Asn
XR_937576.2:n.449G>A
NM_001001890.3:c.142G>A NP_001001890.1:p.Asp48Asn
NM_001122607.2:c.142G>A NP_001116079.1:p.Asp48Asn
NM_001754.5:c.223G>A MANE Select NP_001745.2:p.Asp75Asn
Search 100 bp 5'
Search 100 bp 3'