Canonical Allele Identifier: CA410203796
Gene: RUNX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.36259237T>A (hg19) chr21:g.34886940T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886940T>A , CM000683.2:g.34886940T>A GRCh38
NC_000021.8:g.36259237T>A , CM000683.1:g.36259237T>A GRCh37
NC_000021.7:g.35181107T>A NCBI36
NG_011402.2:g.1102772A>T , LRG_482:g.1102772A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.254A>T MANE Select ENSP00000501943.1:p.His85Leu
ENST00000300305.7:c.254A>T ENSP00000300305.3:p.His85Leu
ENST00000344691.8:c.173A>T ENSP00000340690.4:p.His58Leu
ENST00000358356.9:c.173A>T ENSP00000351123.5:p.His58Leu
ENST00000399237.6:c.218A>T ENSP00000382182.2:p.His73Leu
ENST00000399240.5:c.173A>T ENSP00000382184.1:p.His58Leu
ENST00000437180.5:c.254A>T ENSP00000409227.1:p.His85Leu
ENST00000455571.5:c.215A>T ENSP00000388189.1:p.His72Leu
ENST00000482318.5:c.59-6227A>T ENSP00000477067.1:n.59-6227A>T
NM_001001890.2:c.173A>T NP_001001890.1:p.His58Leu
NM_001122607.1:c.173A>T NP_001116079.1:p.His58Leu
NM_001754.4:c.254A>T , LRG_482t1:c.254A>T NP_001745.2:p.His85Leu
XM_005261068.3:c.218A>T XP_005261125.1:p.His73Leu
XM_005261069.3:c.254A>T XP_005261126.1:p.His85Leu
XM_011529766.1:c.254A>T XP_011528068.1:p.His85Leu
XM_011529767.1:c.215A>T XP_011528069.1:p.His72Leu
XM_011529768.1:c.215A>T XP_011528070.1:p.His72Leu
XM_011529770.1:c.254A>T XP_011528072.1:p.His85Leu
XR_937576.1:n.433A>T
XM_005261069.4:c.254A>T XP_005261126.1:p.His85Leu
XM_011529766.2:c.254A>T XP_011528068.1:p.His85Leu
XM_011529767.2:c.215A>T XP_011528069.1:p.His72Leu
XM_011529768.2:c.215A>T XP_011528070.1:p.His72Leu
XM_011529770.2:c.254A>T XP_011528072.1:p.His85Leu
XM_017028487.1:c.101A>T XP_016883976.1:p.His34Leu
XR_937576.2:n.480A>T
NM_001001890.3:c.173A>T NP_001001890.1:p.His58Leu
NM_001122607.2:c.173A>T NP_001116079.1:p.His58Leu
NM_001754.5:c.254A>T MANE Select NP_001745.2:p.His85Leu
Search 100 bp 5'
Search 100 bp 3'