Canonical Allele Identifier: CA354496798
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 625301
dbSNP Id: rs759945007

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529035G>T , CM000665.2:g.129529035G>T GRCh38
NC_000003.11:g.129247878G>T , CM000665.1:g.129247878G>T GRCh37
NC_000003.10:g.130730568G>T NCBI36
NG_009115.1:g.5397G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.302G>T MANE Select ENSP00000296271.3:p.Gly101Val
ENST00000296271.3:c.302G>T ENSP00000296271.3:p.Gly101Val
NM_000539.3:c.302G>T MANE Select NP_000530.1:p.Gly101Val