Canonical Allele Identifier: CA365417225
Gene: RWDD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.116914175T>C (hg19) chr6:g.116593012T>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000466444.7:c.643T>C MANE Select ENSP00000420357.2:p.Phe215Leu
ENST00000466444.6:c.643T>C ENSP00000420357.2:p.Phe215Leu
ENST00000487832.6:c.355T>C ENSP00000428778.1:p.Phe119Leu
NM_001007464.2:c.355T>C NP_001007465.1:p.Phe119Leu
NM_015952.3:c.643T>C NP_057036.2:p.Phe215Leu
NM_016104.3:c.355T>C NP_057188.2:p.Phe119Leu
NM_015952.4:c.643T>C MANE Select NP_057036.2:p.Phe215Leu
NM_001007464.3:c.355T>C NP_001007465.1:p.Phe119Leu
NM_016104.4:c.355T>C NP_057188.2:p.Phe119Leu
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