Canonical Allele Identifier: CA256671
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 13024
dbSNP Id: rs104893774

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