Canonical Allele Identifier: CA345944312
Community Standard Title: NM_020779.4(WDR35):c.1889T>C (p.Leu630Ser)
Gene: WDR35 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19941796A>G , CM000664.2:g.19941796A>G GRCh38
NC_000002.11:g.20141557A>G , CM000664.1:g.20141557A>G GRCh37
NC_000002.10:g.20005038A>G NCBI36
NG_021212.1:g.53328T>C

Transcript Alleles

HGVS Amino-acid Change
NM_020779.4:c.1889T>C MANE Select NP_065830.2:p.Leu630Ser
ENST00000281405.9:c.1889T>C MANE Select ENSP00000281405.5:p.Leu630Ser
NM_001006657.2:c.1922T>C MANE Plus Clinical NP_001006658.1:p.Leu641Ser
ENST00000345530.8:c.1922T>C MANE Plus Clinical ENSP00000314444.5:p.Leu641Ser
NM_001006657.1:c.1922T>C NP_001006658.1:p.Leu641Ser
NM_020779.3:c.1889T>C NP_065830.2:p.Leu630Ser
ENST00000281405.8:c.1889T>C ENSP00000281405.4:p.Leu630Ser
ENST00000345530.7:c.1922T>C ENSP00000314444.5:p.Leu641Ser
ENST00000414212.5:c.1922T>C ENSP00000390802.1:p.Leu641Ser
ENST00000445063.5:c.1365T>C
ENST00000453014.1:c.527T>C ENSP00000404409.1:p.Leu176Ser
XM_011533007.1:c.617T>C XP_011531309.1:p.Leu206Ser
XM_011533007.2:c.617T>C XP_011531309.1:p.Leu206Ser
XR_001738862.1:n.1922T>C
XR_426989.2:n.1922T>C
XR_426989.3:n.1922T>C
XR_939699.1:n.1879-71T>C
XR_939699.3:n.1879-71T>C