Canonical Allele Identifier: CA1542730
Community Standard Title: NM_020779.4(WDR35):c.3136G>C (p.Asp1046His)
Gene: WDR35 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19914263C>G , CM000664.2:g.19914263C>G GRCh38
NC_000002.11:g.20114024C>G , CM000664.1:g.20114024C>G GRCh37
NC_000002.10:g.19977505C>G NCBI36
NG_021212.1:g.80861G>C

Transcript Alleles

HGVS Amino-acid Change
NM_020779.4:c.3136G>C MANE Select NP_065830.2:p.Asp1046His
ENST00000281405.9:c.3136G>C MANE Select ENSP00000281405.5:p.Asp1046His
NM_001006657.2:c.3169G>C MANE Plus Clinical NP_001006658.1:p.Asp1057His
ENST00000345530.8:c.3169G>C MANE Plus Clinical ENSP00000314444.5:p.Asp1057His
NM_001006657.1:c.3169G>C NP_001006658.1:p.Asp1057His
NM_020779.3:c.3136G>C NP_065830.2:p.Asp1046His
ENST00000281405.8:c.3136G>C ENSP00000281405.4:p.Asp1046His
ENST00000345530.7:c.3169G>C ENSP00000314444.5:p.Asp1057His
ENST00000414212.5:c.*451G>C ENSP00000390802.1:n.*451G>C
ENST00000445063.5:c.2322-555G>C
XM_011533007.1:c.1864G>C XP_011531309.1:p.Asp622His
XM_011533007.2:c.1864G>C XP_011531309.1:p.Asp622His
XR_426989.3:n.3069G>C