Canonical Allele Identifier: CA256690
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 13050
dbSNP Id: rs104893794

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129531025C>T , CM000665.2:g.129531025C>T GRCh38
NC_000003.11:g.129249868C>T , CM000665.1:g.129249868C>T GRCh37
NC_000003.10:g.130732558C>T NCBI36
NG_009115.1:g.7387C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.511C>T MANE Select ENSP00000296271.3:p.Pro171Ser
ENST00000296271.3:c.511C>T ENSP00000296271.3:p.Pro171Ser
NM_000539.3:c.511C>T MANE Select NP_000530.1:p.Pro171Ser