Canonical Allele Identifier: CA256669

Gene: RHO

Linked Data

• ClinVar Variation Id: 13022
• ClinVar RCV Id: RCV001073422 ; RCV001857345 ; RCV000013896
• dbSNP Id: rs104893773
• MyVariant Identifiers: chr3:g.129247892G>T (hg19) ; chr3:g.129529049G>T (hg38)
• PubMed: PMID:1862076

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