Canonical Allele Identifier: CA2607051
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs746210043

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528792T>C , CM000665.2:g.129528792T>C GRCh38
NC_000003.11:g.129247635T>C , CM000665.1:g.129247635T>C GRCh37
NC_000003.10:g.130730325T>C NCBI36
NG_009115.1:g.5154T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.59T>C MANE Select ENSP00000296271.3:p.Val20Ala
ENST00000296271.3:c.59T>C ENSP00000296271.3:p.Val20Ala
NM_000539.3:c.59T>C MANE Select NP_000530.1:p.Val20Ala