Canonical Allele Identifier: CA2607307
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs768300463

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532734A>T , CM000665.2:g.129532734A>T GRCh38
NC_000003.11:g.129251577A>T , CM000665.1:g.129251577A>T GRCh37
NC_000003.10:g.130734267A>T NCBI36
NG_009115.1:g.9096A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.898A>T MANE Select ENSP00000296271.3:p.Ile300Phe
ENST00000296271.3:c.898A>T ENSP00000296271.3:p.Ile300Phe
NM_000539.3:c.898A>T MANE Select NP_000530.1:p.Ile300Phe