Canonical Allele Identifier: CA2607069
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1366909
ClinVar RCV Id: RCV001932362
dbSNP Id: rs534819675
ExAC: 3:129247721 G / A
gnomAD v2: 3-129247721-G-A
gnomAD v3: 3-129528878-G-A
gnomAD v4: 3-129528878-G-A
MyVariant Identifiers: chr3:g.129247721G>A (hg19) chr3:g.129528878G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528878G>A , CM000665.2:g.129528878G>A GRCh38
NC_000003.11:g.129247721G>A , CM000665.1:g.129247721G>A GRCh37
NC_000003.10:g.130730411G>A NCBI36
NG_009115.1:g.5240G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.145G>A MANE Select ENSP00000296271.3:p.Val49Met
ENST00000296271.3:c.145G>A ENSP00000296271.3:p.Val49Met
NM_000539.3:c.145G>A MANE Select NP_000530.1:p.Val49Met
Search 100 bp 5'
Search 100 bp 3'