Canonical Allele Identifier: CA249843

Gene: WDR73 SCAND2P

Linked Data

• ClinVar Variation Id: 208469
• ClinVar RCV Id: RCV000190492 ; RCV001093435 ; RCV001849332
• dbSNP Id: rs797044994
• MyVariant Identifiers: chr15:g.85186898G>A (hg19) ; chr15:g.84643667G>A (hg38)
• PubMed: PMID:16217710 ; PMID:26123727

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.84643667G>A , CM000677.2:g.84643667G>A	GRCh38
NC_000015.9:g.85186898G>A , CM000677.1:g.85186898G>A	GRCh37
NC_000015.8:g.82987902G>A	NCBI36
NG_042034.1:g.15677C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434634.7:c.940C>T (WDR73) MANE Select	ENSP00000387982.3:p.Gln314Ter
ENST00000348993.9:n.5164G>A (SCAND2P)
ENST00000398528.7:n.1016C>T (WDR73)
ENST00000434634.6:c.940C>T (WDR73)	ENSP00000387982.2:p.Gln314Ter
ENST00000558608.1:n.1632C>T (WDR73)
ENST00000559015.5:n.1528C>T (WDR73)
ENST00000559126.5:n.1446C>T (WDR73)
ENST00000559994.5:n.1164C>T (WDR73)
NM_032856.3:c.940C>T (WDR73)	NP_116245.2:p.Gln314Ter
NR_130944.1:n.1446C>T (WDR73)
NR_130945.1:n.1122C>T (WDR73)
NR_130946.1:n.1016C>T (WDR73)
NR_130947.1:n.920C>T (WDR73)
XR_243214.1:n.1167C>T (WDR73)
XR_001751407.2:n.1185C>T (WDR73)
XR_001751408.2:n.1205C>T (WDR73)
XR_243214.3:n.1167C>T (WDR73)
NM_032856.5:c.940C>T (WDR73) MANE Select	NP_116245.2:p.Gln314Ter
NR_130944.2:n.1483C>T (WDR73)
NR_130945.2:n.1062C>T (WDR73)
NR_130946.2:n.956C>T (WDR73)
NR_130947.2:n.860C>T (WDR73)