Canonical Allele Identifier: CA365417552
Gene: RWDD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116593072G>C , CM000668.2:g.116593072G>C GRCh38
NC_000006.11:g.116914235G>C , CM000668.1:g.116914235G>C GRCh37
NC_000006.10:g.117020928G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000466444.7:c.703G>C MANE Select ENSP00000420357.2:p.Ala235Pro
ENST00000466444.6:c.703G>C ENSP00000420357.2:p.Ala235Pro
ENST00000487832.6:c.415G>C ENSP00000428778.1:p.Ala139Pro
NM_001007464.2:c.415G>C NP_001007465.1:p.Ala139Pro
NM_015952.3:c.703G>C NP_057036.2:p.Ala235Pro
NM_016104.3:c.415G>C NP_057188.2:p.Ala139Pro
NM_015952.4:c.703G>C MANE Select NP_057036.2:p.Ala235Pro
NM_001007464.3:c.415G>C NP_001007465.1:p.Ala139Pro
NM_016104.4:c.415G>C NP_057188.2:p.Ala139Pro