Canonical Allele Identifier: CA82647042
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1011170952

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529040T>G , CM000665.2:g.129529040T>G GRCh38
NC_000003.11:g.129247883T>G , CM000665.1:g.129247883T>G GRCh37
NC_000003.10:g.130730573T>G NCBI36
NG_009115.1:g.5402T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.307T>G MANE Select ENSP00000296271.3:p.Phe103Val
ENST00000296271.3:c.307T>G ENSP00000296271.3:p.Phe103Val
NM_000539.3:c.307T>G MANE Select NP_000530.1:p.Phe103Val