Canonical Allele Identifier: CA365417233

Gene: RWDD1

Linked Data

• MyVariant Identifiers: chr6:g.116914177C>G (hg19) ; chr6:g.116593014C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116593014C>G , CM000668.2:g.116593014C>G	GRCh38
NC_000006.11:g.116914177C>G , CM000668.1:g.116914177C>G	GRCh37
NC_000006.10:g.117020870C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466444.7:c.645C>G MANE Select	ENSP00000420357.2:p.Phe215Leu
ENST00000466444.6:c.645C>G	ENSP00000420357.2:p.Phe215Leu
ENST00000487832.6:c.357C>G	ENSP00000428778.1:p.Phe119Leu
NM_001007464.2:c.357C>G	NP_001007465.1:p.Phe119Leu
NM_015952.3:c.645C>G	NP_057036.2:p.Phe215Leu
NM_016104.3:c.357C>G	NP_057188.2:p.Phe119Leu
NM_015952.4:c.645C>G MANE Select	NP_057036.2:p.Phe215Leu
NM_001007464.3:c.357C>G	NP_001007465.1:p.Phe119Leu
NM_016104.4:c.357C>G	NP_057188.2:p.Phe119Leu