Canonical Allele Identifier: CA354497998
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 493373
dbSNP Id: rs1553781140

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530906T>C , CM000665.2:g.129530906T>C GRCh38
NC_000003.11:g.129249749T>C , CM000665.1:g.129249749T>C GRCh37
NC_000003.10:g.130732439T>C NCBI36
NG_009115.1:g.7268T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.392T>C MANE Select ENSP00000296271.3:p.Leu131Pro
ENST00000296271.3:c.392T>C ENSP00000296271.3:p.Leu131Pro
NM_000539.3:c.392T>C MANE Select NP_000530.1:p.Leu131Pro