Canonical Allele Identifier: CA2607162

Gene: RHO

Linked Data

• dbSNP Id: rs774816413
• ExAC: 3:129249820 A / G
• MyVariant Identifiers: chr3:g.129249820A>G (hg19) ; chr3:g.129530977A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530977A>G , CM000665.2:g.129530977A>G	GRCh38
NC_000003.11:g.129249820A>G , CM000665.1:g.129249820A>G	GRCh37
NC_000003.10:g.130732510A>G	NCBI36
NG_009115.1:g.7339A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.463A>G MANE Select	ENSP00000296271.3:p.Met155Val
ENST00000296271.3:c.463A>G	ENSP00000296271.3:p.Met155Val
NM_000539.3:c.463A>G MANE Select	NP_000530.1:p.Met155Val