Canonical Allele Identifier: CA7707442
Community Standard Title: NM_032856.5(WDR73):c.295G>C (p.Val99Leu)
Gene: WDR73 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84647947C>G , CM000677.2:g.84647947C>G GRCh38
NC_000015.9:g.85191178C>G , CM000677.1:g.85191178C>G GRCh37
NC_000015.8:g.82992182C>G NCBI36
NG_042034.1:g.11397G>C

Transcript Alleles

HGVS Amino-acid Change
NM_032856.5:c.295G>C MANE Select NP_116245.2:p.Val99Leu
ENST00000434634.7:c.295G>C MANE Select ENSP00000387982.3:p.Val99Leu
NM_032856.3:c.295G>C NP_116245.2:p.Val99Leu
NR_130944.1:n.801G>C
NR_130944.2:n.838G>C
NR_130945.1:n.364G>C
NR_130945.2:n.304G>C
NR_130946.1:n.371G>C
NR_130946.2:n.311G>C
NR_130947.1:n.275G>C
NR_130947.2:n.215G>C
ENST00000398528.7:n.371G>C
ENST00000434634.6:c.295G>C ENSP00000387982.2:p.Val99Leu
ENST00000558521.5:c.294G>C
ENST00000558608.1:n.640G>C
ENST00000559015.5:n.883G>C
ENST00000559126.5:n.801G>C
ENST00000559178.5:c.279G>C
ENST00000559224.5:c.198G>C
ENST00000559452.5:n.759G>C
ENST00000559994.5:n.308G>C
ENST00000560088.5:n.305G>C
ENST00000560252.5:n.319G>C
ENST00000560835.5:n.311G>C
ENST00000560966.5:n.2079G>C
ENST00000561329.5:n.295G>C
ENST00000561447.5:n.460G>C
XR_001751407.2:n.304G>C
XR_001751408.2:n.311G>C
XR_243214.1:n.311G>C
XR_243214.3:n.311G>C