Canonical Allele Identifier: CA365417117
Gene: RWDD1 HGNC NCBI

Linked Data

dbSNP Id: rs1200469549
gnomAD v2: 6-116914150-C-A
gnomAD v3: 6-116592987-C-A
gnomAD v4: 6-116592987-C-A
MyVariant Identifiers: chr6:g.116914150C>A (hg19) chr6:g.116592987C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116592987C>A , CM000668.2:g.116592987C>A GRCh38
NC_000006.11:g.116914150C>A , CM000668.1:g.116914150C>A GRCh37
NC_000006.10:g.117020843C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000466444.7:c.618C>A MANE Select ENSP00000420357.2:p.Asn206Lys
ENST00000466444.6:c.618C>A ENSP00000420357.2:p.Asn206Lys
ENST00000487832.6:c.330C>A ENSP00000428778.1:p.Asn110Lys
NM_001007464.2:c.330C>A NP_001007465.1:p.Asn110Lys
NM_015952.3:c.618C>A NP_057036.2:p.Asn206Lys
NM_016104.3:c.330C>A NP_057188.2:p.Asn110Lys
NM_015952.4:c.618C>A MANE Select NP_057036.2:p.Asn206Lys
NM_001007464.3:c.330C>A NP_001007465.1:p.Asn110Lys
NM_016104.4:c.330C>A NP_057188.2:p.Asn110Lys
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