Canonical Allele Identifier: CA354470357

Gene: RHO

Linked Data

• MyVariant Identifiers: chr3:g.129251463C>G (hg19) ; chr3:g.129532620C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532620C>G , CM000665.2:g.129532620C>G	GRCh38
NC_000003.11:g.129251463C>G , CM000665.1:g.129251463C>G	GRCh37
NC_000003.10:g.130734153C>G	NCBI36
NG_009115.1:g.8982C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.784C>G MANE Select	ENSP00000296271.3:p.Leu262Val
ENST00000296271.3:c.784C>G	ENSP00000296271.3:p.Leu262Val
NM_000539.3:c.784C>G MANE Select	NP_000530.1:p.Leu262Val