Canonical Allele Identifier: CA354470332
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532608G>C , CM000665.2:g.129532608G>C GRCh38
NC_000003.11:g.129251451G>C , CM000665.1:g.129251451G>C GRCh37
NC_000003.10:g.130734141G>C NCBI36
NG_009115.1:g.8970G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.772G>C MANE Select ENSP00000296271.3:p.Val258Leu
ENST00000296271.3:c.772G>C ENSP00000296271.3:p.Val258Leu
NM_000539.3:c.772G>C MANE Select NP_000530.1:p.Val258Leu