Canonical Allele Identifier: CA435769101
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1399379654
gnomAD v2: 3-129251477-G-A
gnomAD v3: 3-129532634-G-A
gnomAD v4: 3-129532634-G-A
MyVariant Identifiers: chr3:g.129251477G>A (hg19) chr3:g.129532634G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532634G>A , CM000665.2:g.129532634G>A GRCh38
NC_000003.11:g.129251477G>A , CM000665.1:g.129251477G>A GRCh37
NC_000003.10:g.130734167G>A NCBI36
NG_009115.1:g.8996G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.798G>A MANE Select ENSP00000296271.3:p.Val266=
ENST00000296271.3:c.798G>A ENSP00000296271.3:p.Val266=
NM_000539.3:c.798G>A MANE Select NP_000530.1:p.Val266=
Search 100 bp 5'
Search 100 bp 3'