Canonical Allele Identifier: CA365417222
Gene: RWDD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116593012T>A , CM000668.2:g.116593012T>A GRCh38
NC_000006.11:g.116914175T>A , CM000668.1:g.116914175T>A GRCh37
NC_000006.10:g.117020868T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000466444.7:c.643T>A MANE Select ENSP00000420357.2:p.Phe215Ile
ENST00000466444.6:c.643T>A ENSP00000420357.2:p.Phe215Ile
ENST00000487832.6:c.355T>A ENSP00000428778.1:p.Phe119Ile
NM_001007464.2:c.355T>A NP_001007465.1:p.Phe119Ile
NM_015952.3:c.643T>A NP_057036.2:p.Phe215Ile
NM_016104.3:c.355T>A NP_057188.2:p.Phe119Ile
NM_015952.4:c.643T>A MANE Select NP_057036.2:p.Phe215Ile
NM_001007464.3:c.355T>A NP_001007465.1:p.Phe119Ile
NM_016104.4:c.355T>A NP_057188.2:p.Phe119Ile