Canonical Allele Identifier: CA354470177
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532537C>T , CM000665.2:g.129532537C>T GRCh38
NC_000003.11:g.129251380C>T , CM000665.1:g.129251380C>T GRCh37
NC_000003.10:g.130734070C>T NCBI36
NG_009115.1:g.8899C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.701C>T MANE Select ENSP00000296271.3:p.Ala234Val
ENST00000296271.3:c.701C>T ENSP00000296271.3:p.Ala234Val
NM_000539.3:c.701C>T MANE Select NP_000530.1:p.Ala234Val