Canonical Allele Identifier: CA2459086
Community Standard Title: NM_003392.7(WNT5A):c.251A>T (p.His84Leu)
Gene: WNT5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.55479454T>A , CM000665.2:g.55479454T>A GRCh38
NC_000003.11:g.55513482T>A , CM000665.1:g.55513482T>A GRCh37
NC_000003.10:g.55488522T>A NCBI36
NG_031992.1:g.13189A>T

Transcript Alleles

HGVS Amino-acid Change
NM_003392.7:c.251A>T MANE Select NP_003383.4:p.His84Leu
ENST00000264634.9:c.251A>T MANE Select ENSP00000264634.4:p.His84Leu
NM_001256105.1:c.206A>T NP_001243034.1:p.His69Leu
NM_001377271.1:c.206A>T NP_001364200.1:p.His69Leu
NM_001377272.1:c.206A>T NP_001364201.1:p.His69Leu
NM_003392.4:c.251A>T NP_003383.2:p.His84Leu
NM_003392.5:c.206A>T NP_003383.3:p.His69Leu
ENST00000264634.8:c.251A>T ENSP00000264634.4:p.His84Leu
ENST00000474267.5:c.251A>T ENSP00000417310.1:p.His84Leu
ENST00000482079.1:c.206A>T ENSP00000418184.1:p.His69Leu
ENST00000497027.5:c.206A>T ENSP00000420104.1:p.His69Leu
ENST00000497817.1:n.247A>T
ENST00000614415.1:c.177+74A>T ENSP00000478784.1:n.177+74A>T
XM_006713324.1:c.206A>T XP_006713387.1:p.His69Leu
XM_011534081.1:c.206A>T XP_011532383.1:p.His69Leu
XM_011534082.1:c.206A>T XP_011532384.1:p.His69Leu
XM_011534083.1:c.206A>T XP_011532385.1:p.His69Leu
XM_011534084.1:c.206A>T XP_011532386.1:p.His69Leu
XM_011534085.1:c.206A>T XP_011532387.1:p.His69Leu
XM_011534085.2:c.206A>T XP_011532387.1:p.His69Leu
XM_011534086.1:c.206A>T XP_011532388.1:p.His69Leu
XM_011534086.2:c.206A>T XP_011532388.1:p.His69Leu
XM_011534087.1:c.206A>T XP_011532389.1:p.His69Leu
XM_011534087.2:c.206A>T XP_011532389.1:p.His69Leu
XM_011534088.1:c.206A>T XP_011532390.1:p.His69Leu
XM_011534088.2:c.206A>T XP_011532390.1:p.His69Leu
XM_011534089.1:c.206A>T XP_011532391.1:p.His69Leu
XM_017007127.1:c.293A>T XP_016862616.1:p.His98Leu
XM_017007128.1:c.206A>T XP_016862617.1:p.His69Leu