Canonical Allele Identifier: CA365417549

Gene: RWDD1

Linked Data

• MyVariant Identifiers: chr6:g.116914235G>A (hg19) ; chr6:g.116593072G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466444.7:c.703G>A MANE Select	ENSP00000420357.2:p.Ala235Thr
ENST00000466444.6:c.703G>A	ENSP00000420357.2:p.Ala235Thr
ENST00000487832.6:c.415G>A	ENSP00000428778.1:p.Ala139Thr
NM_001007464.2:c.415G>A	NP_001007465.1:p.Ala139Thr
NM_015952.3:c.703G>A	NP_057036.2:p.Ala235Thr
NM_016104.3:c.415G>A	NP_057188.2:p.Ala139Thr
NM_015952.4:c.703G>A MANE Select	NP_057036.2:p.Ala235Thr
NM_001007464.3:c.415G>A	NP_001007465.1:p.Ala139Thr
NM_016104.4:c.415G>A	NP_057188.2:p.Ala139Thr