Canonical Allele Identifier: CA249836

Gene: WDR73 SCAND2P

Linked Data

• ClinVar Variation Id: 208465
• ClinVar RCV Id: RCV000190488 ; RCV001849331
• dbSNP Id: rs797044992
• gnomAD v3: 15-84645651-G-A
• gnomAD v4: 15-84645651-G-A
• MyVariant Identifiers: chr15:g.85188882G>A (hg19) ; chr15:g.84645651G>A (hg38)
• PubMed: PMID:25873735

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.84645651G>A , CM000677.2:g.84645651G>A	GRCh38
NC_000015.9:g.85188882G>A , CM000677.1:g.85188882G>A	GRCh37
NC_000015.8:g.82989886G>A	NCBI36
NG_042034.1:g.13693C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434634.7:c.703C>T (WDR73) MANE Select	ENSP00000387982.3:p.Gln235Ter
ENST00000348993.9:n.7148G>A (SCAND2P)
ENST00000398528.7:n.779C>T (WDR73)
ENST00000434634.6:c.703C>T (WDR73)	ENSP00000387982.2:p.Gln235Ter
ENST00000558521.5:c.815C>T (WDR73)
ENST00000558608.1:n.1395C>T (WDR73)
ENST00000559015.5:n.1291C>T (WDR73)
ENST00000559126.5:n.1209C>T (WDR73)
ENST00000559224.5:c.606C>T (WDR73)
ENST00000559452.5:n.1167C>T (WDR73)
ENST00000559994.5:n.927C>T (WDR73)
ENST00000560966.5:n.4375C>T (WDR73)
NM_032856.3:c.703C>T (WDR73)	NP_116245.2:p.Gln235Ter
NR_130944.1:n.1209C>T (WDR73)
NR_130945.1:n.885C>T (WDR73)
NR_130946.1:n.779C>T (WDR73)
NR_130947.1:n.683C>T (WDR73)
XR_243214.1:n.930C>T (WDR73)
XR_001751407.2:n.712C>T (WDR73)
XR_001751408.2:n.968C>T (WDR73)
XR_243214.3:n.930C>T (WDR73)
NM_032856.5:c.703C>T (WDR73) MANE Select	NP_116245.2:p.Gln235Ter
NR_130944.2:n.1246C>T (WDR73)
NR_130945.2:n.825C>T (WDR73)
NR_130946.2:n.719C>T (WDR73)
NR_130947.2:n.623C>T (WDR73)