Canonical Allele Identifier: CA2607235
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1351568
ClinVar RCV Id: RCV002044825
dbSNP Id: rs764633076
ExAC: 3:129251234 G / A
gnomAD v2: 3-129251234-G-A
gnomAD v3: 3-129532391-G-A
gnomAD v4: 3-129532391-G-A
MyVariant Identifiers: chr3:g.129251234G>A (hg19) chr3:g.129532391G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532391G>A , CM000665.2:g.129532391G>A GRCh38
NC_000003.11:g.129251234G>A , CM000665.1:g.129251234G>A GRCh37
NC_000003.10:g.130733924G>A NCBI36
NG_009115.1:g.8753G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.671G>A MANE Select ENSP00000296271.3:p.Gly224Glu
ENST00000296271.3:c.671G>A ENSP00000296271.3:p.Gly224Glu
NM_000539.3:c.671G>A MANE Select NP_000530.1:p.Gly224Glu
Search 100 bp 5'
Search 100 bp 3'