Canonical Allele Identifier: CA256671
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 13024
ClinVar RCV Id: RCV000013898 RCV000256085
dbSNP Id: rs104893774
MyVariant Identifiers: chr3:g.129249761G>T (hg19) chr3:g.129530918G>T (hg38)
PubMed: PMID:1484692 PMID:1862076 PMID:1882937
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530918G>T , CM000665.2:g.129530918G>T GRCh38
NC_000003.11:g.129249761G>T , CM000665.1:g.129249761G>T GRCh37
NC_000003.10:g.130732451G>T NCBI36
NG_009115.1:g.7280G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.404G>T MANE Select ENSP00000296271.3:p.Arg135Leu
ENST00000296271.3:c.404G>T ENSP00000296271.3:p.Arg135Leu
NM_000539.3:c.404G>T MANE Select NP_000530.1:p.Arg135Leu
Search 100 bp 5'
Search 100 bp 3'