Canonical Allele Identifier: CA354496594

Gene: RHO

Linked Data

• ClinVar Variation Id: 2578949
• ClinVar RCV Id: RCV003327125
• MyVariant Identifiers: chr3:g.129247835G>T (hg19) ; chr3:g.129528992G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528992G>T , CM000665.2:g.129528992G>T	GRCh38
NC_000003.11:g.129247835G>T , CM000665.1:g.129247835G>T	GRCh37
NC_000003.10:g.130730525G>T	NCBI36
NG_009115.1:g.5354G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.259G>T MANE Select	ENSP00000296271.3:p.Val87Phe
ENST00000296271.3:c.259G>T	ENSP00000296271.3:p.Val87Phe
NM_000539.3:c.259G>T MANE Select	NP_000530.1:p.Val87Phe