Canonical Allele Identifier: CA354495878
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528865G>C , CM000665.2:g.129528865G>C GRCh38
NC_000003.11:g.129247708G>C , CM000665.1:g.129247708G>C GRCh37
NC_000003.10:g.130730398G>C NCBI36
NG_009115.1:g.5227G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.132G>C MANE Select ENSP00000296271.3:p.Met44Ile
ENST00000296271.3:c.132G>C ENSP00000296271.3:p.Met44Ile
NM_000539.3:c.132G>C MANE Select NP_000530.1:p.Met44Ile