Canonical Allele Identifier: CA256662
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 13014
dbSNP Id: rs29001566

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129533711C>T , CM000665.2:g.129533711C>T GRCh38
NC_000003.11:g.129252554C>T , CM000665.1:g.129252554C>T GRCh37
NC_000003.10:g.130735244C>T NCBI36
NG_009115.1:g.10073C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.1040C>T MANE Select ENSP00000296271.3:p.Pro347Leu
ENST00000296271.3:c.1040C>T ENSP00000296271.3:p.Pro347Leu
NM_000539.3:c.1040C>T MANE Select NP_000530.1:p.Pro347Leu