Canonical Allele Identifier: CA82648646

Gene: RHO

Linked Data

• dbSNP Id: rs745759264
• gnomAD v4: 3-129530998-G-C
• MyVariant Identifiers: chr3:g.129249841G>C (hg19) ; chr3:g.129530998G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530998G>C , CM000665.2:g.129530998G>C	GRCh38
NC_000003.11:g.129249841G>C , CM000665.1:g.129249841G>C	GRCh37
NC_000003.10:g.130732531G>C	NCBI36
NG_009115.1:g.7360G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.484G>C MANE Select	ENSP00000296271.3:p.Val162Leu
ENST00000296271.3:c.484G>C	ENSP00000296271.3:p.Val162Leu
NM_000539.3:c.484G>C MANE Select	NP_000530.1:p.Val162Leu