Canonical Allele Identifier: CA16593092
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs8130963
gnomAD v2: 21-36267418-A-G
gnomAD v3: 21-34895121-A-G
gnomAD v4: 21-34895121-A-G
MyVariant Identifiers: chr21:g.36267418A>G (hg19) chr21:g.34895121A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34895121A>G , CM000683.2:g.34895121A>G GRCh38
NC_000021.8:g.36267418A>G , CM000683.1:g.36267418A>G GRCh37
NC_000021.7:g.35189288A>G NCBI36
NG_011402.2:g.1094591T>C , LRG_482:g.1094591T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000675419.1:c.59-2158T>C MANE Select ENSP00000501943.1:n.59-2158T>C
ENST00000300305.7:c.59-2158T>C ENSP00000300305.3:n.59-2158T>C
ENST00000416754.1:c.59-2158T>C ENSP00000405158.1:n.59-2158T>C
ENST00000437180.5:c.59-2158T>C ENSP00000409227.1:n.59-2158T>C
ENST00000455571.5:c.59-8025T>C ENSP00000388189.1:n.59-8025T>C
ENST00000475045.6:c.59-2158T>C ENSP00000477072.1:n.59-2158T>C
ENST00000482318.5:c.59-14408T>C ENSP00000477067.1:n.59-14408T>C
NM_001754.4:c.59-2158T>C , LRG_482t1:c.59-2158T>C NP_001745.2:n.59-2158T>C
XM_005261069.3:c.59-2158T>C XP_005261126.1:n.59-2158T>C
XM_011529766.1:c.59-2158T>C XP_011528068.1:n.59-2158T>C
XM_011529767.1:c.59-8025T>C XP_011528069.1:n.59-8025T>C
XM_011529768.1:c.59-8025T>C XP_011528070.1:n.59-8025T>C
XM_011529770.1:c.59-2158T>C XP_011528072.1:n.59-2158T>C
XR_937576.1:n.238-2158T>C
XM_005261069.4:c.59-2158T>C XP_005261126.1:n.59-2158T>C
XM_011529766.2:c.59-2158T>C XP_011528068.1:n.59-2158T>C
XM_011529767.2:c.59-8025T>C XP_011528069.1:n.59-8025T>C
XM_011529768.2:c.59-8025T>C XP_011528070.1:n.59-8025T>C
XM_011529770.2:c.59-2158T>C XP_011528072.1:n.59-2158T>C
XR_937576.2:n.285-2158T>C
NM_001754.5:c.59-2158T>C MANE Select NP_001745.2:n.59-2158T>C
Search 100 bp 5'
Search 100 bp 3'