Canonical Allele Identifier: CA358858895
Community Standard Title: NM_152682.4(RWDD4):c.544A>C (p.Thr182Pro)
Gene: RWDD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.183641459T>G , CM000666.2:g.183641459T>G GRCh38
NC_000004.11:g.184562612T>G , CM000666.1:g.184562612T>G GRCh37
NC_000004.10:g.184799606T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_152682.4:c.544A>C MANE Select NP_689895.2:p.Thr182Pro
ENST00000326397.10:c.544A>C MANE Select ENSP00000388920.2:p.Thr182Pro
NM_001307922.1:c.355A>C NP_001294851.1:p.Thr119Pro
NM_001307922.2:c.355A>C NP_001294851.1:p.Thr119Pro
NM_152682.2:c.544A>C NP_689895.2:p.Thr182Pro
NM_152682.3:c.544A>C NP_689895.2:p.Thr182Pro
ENST00000326397.9:c.544A>C ENSP00000388920.2:p.Thr182Pro
ENST00000327570.13:c.541A>C ENSP00000332177.9:p.Thr181Pro
ENST00000510702.5:c.*405A>C ENSP00000427164.1:n.*405A>C
ENST00000510968.5:c.259A>C ENSP00000426329.1:p.Thr87Pro
ENST00000512740.1:c.355A>C ENSP00000423598.1:p.Thr119Pro
ENST00000514322.1:c.*272A>C ENSP00000420945.1:n.*272A>C
XR_002959716.1:n.944A>C