Canonical Allele Identifier: CA114065

Gene: WDR72

Linked Data

• ClinVar Variation Id: 232
• ClinVar RCV Id: RCV000000256 ; RCV000421226
• dbSNP Id: rs143816093
• ExAC: 15:53901728 C / T
• gnomAD v2: 15-53901728-C-T
• gnomAD v4: 15-53609531-C-T
• MyVariant Identifiers: chr15:g.53901728C>T (hg19) ; chr15:g.53609531C>T (hg38)
• PubMed: PMID:19853237

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.53609531C>T , CM000677.2:g.53609531C>T	GRCh38
NC_000015.9:g.53901728C>T , CM000677.1:g.53901728C>T	GRCh37
NC_000015.8:g.51689020C>T	NCBI36
NG_017034.2:g.155132G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360509.10:c.2934G>A MANE Select	ENSP00000353699.5:p.Trp978Ter
ENST00000360509.9:c.2934G>A	ENSP00000353699.5:p.Trp978Ter
ENST00000396328.5:c.2934G>A	ENSP00000379619.1:p.Trp978Ter
ENST00000557913.5:c.2925G>A	ENSP00000453378.1:p.Trp975Ter
ENST00000559418.5:c.2964G>A	ENSP00000452765.1:p.Trp988Ter
NM_182758.3:c.2934G>A	NP_877435.3:p.Trp978Ter
NR_102334.1:n.3174G>A
XM_011521433.1:c.2934G>A	XP_011519735.1:p.Trp978Ter
XM_011521434.1:c.2934G>A	XP_011519736.1:p.Trp978Ter
XM_011521435.1:c.2934G>A	XP_011519737.1:p.Trp978Ter
XM_011521436.1:c.2916G>A	XP_011519738.1:p.Trp972Ter
XM_011521437.1:c.2814G>A	XP_011519739.1:p.Trp938Ter
XM_011521433.2:c.2934G>A	XP_011519735.1:p.Trp978Ter
XM_011521435.2:c.2934G>A	XP_011519737.1:p.Trp978Ter
XM_011521436.2:c.2916G>A	XP_011519738.1:p.Trp972Ter
XM_011521437.2:c.2814G>A	XP_011519739.1:p.Trp938Ter
XM_017022061.1:c.2934G>A	XP_016877550.1:p.Trp978Ter
NM_182758.4:c.2934G>A MANE Select	NP_877435.3:p.Trp978Ter
NR_102334.2:n.3174G>A