Canonical Allele Identifier: CA365417163

Gene: RWDD1

Linked Data

• MyVariant Identifiers: chr6:g.116914161T>C (hg19) ; chr6:g.116592998T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116592998T>C , CM000668.2:g.116592998T>C	GRCh38
NC_000006.11:g.116914161T>C , CM000668.1:g.116914161T>C	GRCh37
NC_000006.10:g.117020854T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466444.7:c.629T>C MANE Select	ENSP00000420357.2:p.Val210Ala
ENST00000466444.6:c.629T>C	ENSP00000420357.2:p.Val210Ala
ENST00000487832.6:c.341T>C	ENSP00000428778.1:p.Val114Ala
NM_001007464.2:c.341T>C	NP_001007465.1:p.Val114Ala
NM_015952.3:c.629T>C	NP_057036.2:p.Val210Ala
NM_016104.3:c.341T>C	NP_057188.2:p.Val114Ala
NM_015952.4:c.629T>C MANE Select	NP_057036.2:p.Val210Ala
NM_001007464.3:c.341T>C	NP_001007465.1:p.Val114Ala
NM_016104.4:c.341T>C	NP_057188.2:p.Val114Ala