Canonical Allele Identifier: CA7707132
Community Standard Title: NM_032856.5(WDR73):c.1133G>A (p.Arg378His)
Gene: WDR73 HGNC NCBI
SCAND2P HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84643474C>T , CM000677.2:g.84643474C>T GRCh38
NC_000015.9:g.85186705C>T , CM000677.1:g.85186705C>T GRCh37
NC_000015.8:g.82987709C>T NCBI36
NG_042034.1:g.15870G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032856.5:c.1133G>A (WDR73) MANE Select NP_116245.2:p.Arg378His
ENST00000434634.7:c.1133G>A (WDR73) MANE Select ENSP00000387982.3:p.Arg378His
NM_032856.3:c.1133G>A (WDR73) NP_116245.2:p.Arg378His
NR_130944.1:n.1639G>A (WDR73)
NR_130944.2:n.1676G>A (WDR73)
NR_130945.1:n.1315G>A (WDR73)
NR_130945.2:n.1255G>A (WDR73)
NR_130946.1:n.1209G>A (WDR73)
NR_130946.2:n.1149G>A (WDR73)
NR_130947.1:n.1113G>A (WDR73)
NR_130947.2:n.1053G>A (WDR73)
ENST00000348993.9:n.4971C>T (SCAND2P)
ENST00000398528.7:n.1209G>A (WDR73)
ENST00000434634.6:c.1133G>A (WDR73) ENSP00000387982.2:p.Arg378His
ENST00000558608.1:n.1825G>A (WDR73)
ENST00000559015.5:n.1721G>A (WDR73)
ENST00000559126.5:n.1639G>A (WDR73)
ENST00000559994.5:n.1357G>A (WDR73)
XR_001751407.2:n.1378G>A (WDR73)
XR_001751408.2:n.1398G>A (WDR73)
XR_243214.1:n.1360G>A (WDR73)
XR_243214.3:n.1360G>A (WDR73)