Canonical Allele Identifier: CA354470002

Gene: RHO

Linked Data

• MyVariant Identifiers: chr3:g.129251222T>C (hg19) ; chr3:g.129532379T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532379T>C , CM000665.2:g.129532379T>C	GRCh38
NC_000003.11:g.129251222T>C , CM000665.1:g.129251222T>C	GRCh37
NC_000003.10:g.130733912T>C	NCBI36
NG_009115.1:g.8741T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.659T>C MANE Select	ENSP00000296271.3:p.Phe220Ser
ENST00000296271.3:c.659T>C	ENSP00000296271.3:p.Phe220Ser
NM_000539.3:c.659T>C MANE Select	NP_000530.1:p.Phe220Ser