Canonical Allele Identifier: CA354499271
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 811432
ClinVar RCV Id: RCV001001281 RCV001041691 RCV001265198
dbSNP Id: rs1424131846
gnomAD v2: 3-129251126-G-A
gnomAD v4: 3-129532283-G-A
MyVariant Identifiers: chr3:g.129251126G>A (hg19) chr3:g.129532283G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532283G>A , CM000665.2:g.129532283G>A GRCh38
NC_000003.11:g.129251126G>A , CM000665.1:g.129251126G>A GRCh37
NC_000003.10:g.130733816G>A NCBI36
NG_009115.1:g.8645G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.563G>A MANE Select ENSP00000296271.3:p.Gly188Glu
ENST00000296271.3:c.563G>A ENSP00000296271.3:p.Gly188Glu
NM_000539.3:c.563G>A MANE Select NP_000530.1:p.Gly188Glu
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