Canonical Allele Identifier: CA354470387
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532632G>T , CM000665.2:g.129532632G>T GRCh38
NC_000003.11:g.129251475G>T , CM000665.1:g.129251475G>T GRCh37
NC_000003.10:g.130734165G>T NCBI36
NG_009115.1:g.8994G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.796G>T MANE Select ENSP00000296271.3:p.Val266Leu
ENST00000296271.3:c.796G>T ENSP00000296271.3:p.Val266Leu
NM_000539.3:c.796G>T MANE Select NP_000530.1:p.Val266Leu