Canonical Allele Identifier: CA256669
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 13022
dbSNP Id: rs104893773

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529049G>T , CM000665.2:g.129529049G>T GRCh38
NC_000003.11:g.129247892G>T , CM000665.1:g.129247892G>T GRCh37
NC_000003.10:g.130730582G>T NCBI36
NG_009115.1:g.5411G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.316G>T MANE Select ENSP00000296271.3:p.Gly106Trp
ENST00000296271.3:c.316G>T ENSP00000296271.3:p.Gly106Trp
NM_000539.3:c.316G>T MANE Select NP_000530.1:p.Gly106Trp