Canonical Allele Identifier: CA1543121
Community Standard Title: NM_020779.4(WDR35):c.1753G>A (p.Val585Ile)
Gene: WDR35 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19945878C>T , CM000664.2:g.19945878C>T GRCh38
NC_000002.11:g.20145639C>T , CM000664.1:g.20145639C>T GRCh37
NC_000002.10:g.20009120C>T NCBI36
NG_021212.1:g.49246G>A

Transcript Alleles

HGVS Amino-acid Change
NM_020779.4:c.1753G>A MANE Select NP_065830.2:p.Val585Ile
ENST00000281405.9:c.1753G>A MANE Select ENSP00000281405.5:p.Val585Ile
NM_001006657.2:c.1786G>A MANE Plus Clinical NP_001006658.1:p.Val596Ile
ENST00000345530.8:c.1786G>A MANE Plus Clinical ENSP00000314444.5:p.Val596Ile
NM_001006657.1:c.1786G>A NP_001006658.1:p.Val596Ile
NM_020779.3:c.1753G>A NP_065830.2:p.Val585Ile
ENST00000281405.8:c.1753G>A ENSP00000281405.4:p.Val585Ile
ENST00000345530.7:c.1786G>A ENSP00000314444.5:p.Val596Ile
ENST00000414212.5:c.1786G>A ENSP00000390802.1:p.Val596Ile
ENST00000445063.5:c.1229G>A
ENST00000453014.1:c.391G>A ENSP00000404409.1:p.Val131Ile
XM_011533007.1:c.481G>A XP_011531309.1:p.Val161Ile
XM_011533007.2:c.481G>A XP_011531309.1:p.Val161Ile
XR_001738862.1:n.1786G>A
XR_426989.2:n.1786G>A
XR_426989.3:n.1786G>A
XR_939699.1:n.1786G>A
XR_939699.3:n.1786G>A