Canonical Allele Identifier: CA259668
Gene: WNT5A HGNC NCBI

Linked Data

ClinVar Variation Id: 29819
ClinVar RCV Id: RCV000022695
dbSNP Id: rs387906663
gnomAD v4: 3-55474477-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.55474477A>G , CM000665.2:g.55474477A>G GRCh38
NC_000003.11:g.55508505A>G , CM000665.1:g.55508505A>G GRCh37
NC_000003.10:g.55483545A>G NCBI36
NG_031992.1:g.18166T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264634.9:c.544T>C MANE Select ENSP00000264634.4:p.Cys182Arg
ENST00000264634.8:c.544T>C ENSP00000264634.4:p.Cys182Arg
ENST00000474267.5:c.544T>C ENSP00000417310.1:p.Cys182Arg
ENST00000482079.1:c.499T>C ENSP00000418184.1:p.Cys167Arg
ENST00000497027.5:c.499T>C ENSP00000420104.1:p.Cys167Arg
ENST00000614415.1:c.178-4223T>C ENSP00000478784.1:n.178-4223T>C
NM_001256105.1:c.499T>C NP_001243034.1:p.Cys167Arg
NM_003392.4:c.544T>C NP_003383.2:p.Cys182Arg
XM_006713324.1:c.499T>C XP_006713387.1:p.Cys167Arg
XM_011534081.1:c.499T>C XP_011532383.1:p.Cys167Arg
XM_011534082.1:c.499T>C XP_011532384.1:p.Cys167Arg
XM_011534083.1:c.499T>C XP_011532385.1:p.Cys167Arg
XM_011534084.1:c.499T>C XP_011532386.1:p.Cys167Arg
XM_011534085.1:c.499T>C XP_011532387.1:p.Cys167Arg
XM_011534086.1:c.499T>C XP_011532388.1:p.Cys167Arg
XM_011534087.1:c.499T>C XP_011532389.1:p.Cys167Arg
XM_011534088.1:c.499T>C XP_011532390.1:p.Cys167Arg
XM_011534089.1:c.499T>C XP_011532391.1:p.Cys167Arg
XM_011534085.2:c.499T>C XP_011532387.1:p.Cys167Arg
XM_011534086.2:c.499T>C XP_011532388.1:p.Cys167Arg
XM_011534087.2:c.499T>C XP_011532389.1:p.Cys167Arg
XM_011534088.2:c.499T>C XP_011532390.1:p.Cys167Arg
XM_017007127.1:c.586T>C XP_016862616.1:p.Cys196Arg
XM_017007128.1:c.499T>C XP_016862617.1:p.Cys167Arg
NM_001377271.1:c.499T>C NP_001364200.1:p.Cys167Arg
NM_001377272.1:c.499T>C NP_001364201.1:p.Cys167Arg
NM_003392.5:c.499T>C NP_003383.3:p.Cys167Arg
NM_003392.7:c.544T>C MANE Select NP_003383.4:p.Cys182Arg