Canonical Allele Identifier: CA2458912
Community Standard Title: NM_003392.7(WNT5A):c.1080C>T (p.His360=)
Gene: WNT5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.55470155G>A , CM000665.2:g.55470155G>A GRCh38
NC_000003.11:g.55504183G>A , CM000665.1:g.55504183G>A GRCh37
NC_000003.10:g.55479223G>A NCBI36
NG_031992.1:g.22488C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003392.7:c.1080C>T MANE Select NP_003383.4:p.His360=
ENST00000264634.9:c.1080C>T MANE Select ENSP00000264634.4:p.His360=
NM_001256105.1:c.1035C>T NP_001243034.1:p.His345=
NM_001377271.1:c.1035C>T NP_001364200.1:p.His345=
NM_001377272.1:c.1035C>T NP_001364201.1:p.His345=
NM_003392.4:c.1080C>T NP_003383.2:p.His360=
NM_003392.5:c.1035C>T NP_003383.3:p.His345=
ENST00000264634.8:c.1080C>T ENSP00000264634.4:p.His360=
ENST00000474267.5:c.1080C>T ENSP00000417310.1:p.His360=
ENST00000497027.5:c.1035C>T ENSP00000420104.1:p.His345=
ENST00000614415.1:c.277C>T ENSP00000478784.1:p.Leu93=
XM_006713324.1:c.1035C>T XP_006713387.1:p.His345=
XM_011534081.1:c.1035C>T XP_011532383.1:p.His345=
XM_011534082.1:c.1035C>T XP_011532384.1:p.His345=
XM_011534083.1:c.1035C>T XP_011532385.1:p.His345=
XM_011534084.1:c.1035C>T XP_011532386.1:p.His345=
XM_011534085.1:c.1035C>T XP_011532387.1:p.His345=
XM_011534085.2:c.1035C>T XP_011532387.1:p.His345=
XM_011534086.1:c.1035C>T XP_011532388.1:p.His345=
XM_011534086.2:c.1035C>T XP_011532388.1:p.His345=
XM_011534087.1:c.1035C>T XP_011532389.1:p.His345=
XM_011534087.2:c.1035C>T XP_011532389.1:p.His345=
XM_011534088.1:c.1035C>T XP_011532390.1:p.His345=
XM_011534088.2:c.1035C>T XP_011532390.1:p.His345=
XM_011534089.1:c.1035C>T XP_011532391.1:p.His345=
XM_017007127.1:c.1122C>T XP_016862616.1:p.His374=
XM_017007128.1:c.1035C>T XP_016862617.1:p.His345=