Canonical Allele Identifier: CA569698019

Gene: RWDD1

Linked Data

• dbSNP Id: rs1279263437
• gnomAD v2: 6-116914132-G-T
• gnomAD v3: 6-116592969-G-T
• gnomAD v4: 6-116592969-G-T
• MyVariant Identifiers: chr6:g.116914132G>T (hg19) ; chr6:g.116592969G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116592969G>T , CM000668.2:g.116592969G>T	GRCh38
NC_000006.11:g.116914132G>T , CM000668.1:g.116914132G>T	GRCh37
NC_000006.10:g.117020825G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466444.7:c.611-11G>T MANE Select	ENSP00000420357.2:n.611-11G>T
ENST00000466444.6:c.611-11G>T	ENSP00000420357.2:n.611-11G>T
ENST00000487832.6:c.323-11G>T	ENSP00000428778.1:n.323-11G>T
NM_001007464.2:c.323-11G>T	NP_001007465.1:n.323-11G>T
NM_015952.3:c.611-11G>T	NP_057036.2:n.611-11G>T
NM_016104.3:c.323-11G>T	NP_057188.2:n.323-11G>T
NM_015952.4:c.611-11G>T MANE Select	NP_057036.2:n.611-11G>T
NM_001007464.3:c.323-11G>T	NP_001007465.1:n.323-11G>T
NM_016104.4:c.323-11G>T	NP_057188.2:n.323-11G>T