Canonical Allele Identifier: CA145912706

Gene: RWDD1

Linked Data

• dbSNP Id: rs540774690
• gnomAD v3: 6-116592891-T-A
• gnomAD v4: 6-116592891-T-A
• MyVariant Identifiers: chr6:g.116914054T>A (hg19) ; chr6:g.116592891T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116592891T>A , CM000668.2:g.116592891T>A	GRCh38
NC_000006.11:g.116914054T>A , CM000668.1:g.116914054T>A	GRCh37
NC_000006.10:g.117020747T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466444.7:c.611-89T>A MANE Select	ENSP00000420357.2:n.611-89T>A
ENST00000466444.6:c.611-89T>A	ENSP00000420357.2:n.611-89T>A
ENST00000487832.6:c.323-89T>A	ENSP00000428778.1:n.323-89T>A
NM_001007464.2:c.323-89T>A	NP_001007465.1:n.323-89T>A
NM_015952.3:c.611-89T>A	NP_057036.2:n.611-89T>A
NM_016104.3:c.323-89T>A	NP_057188.2:n.323-89T>A
NM_015952.4:c.611-89T>A MANE Select	NP_057036.2:n.611-89T>A
NM_001007464.3:c.323-89T>A	NP_001007465.1:n.323-89T>A
NM_016104.4:c.323-89T>A	NP_057188.2:n.323-89T>A