Canonical Allele Identifier: CA256680
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 13034
ClinVar RCV Id: RCV000013909 RCV001003172 RCV001582479
dbSNP Id: rs104893781
gnomAD v4: 3-129532636-C-T
MyVariant Identifiers: chr3:g.129251479C>T (hg19) chr3:g.129532636C>T (hg38)
PubMed: PMID:1897520
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532636C>T , CM000665.2:g.129532636C>T GRCh38
NC_000003.11:g.129251479C>T , CM000665.1:g.129251479C>T GRCh37
NC_000003.10:g.130734169C>T NCBI36
NG_009115.1:g.8998C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.800C>T MANE Select ENSP00000296271.3:p.Pro267Leu
ENST00000296271.3:c.800C>T ENSP00000296271.3:p.Pro267Leu
NM_000539.3:c.800C>T MANE Select NP_000530.1:p.Pro267Leu
Search 100 bp 5'
Search 100 bp 3'