Canonical Allele Identifier: CA354469970

Gene: RHO

Linked Data

• MyVariant Identifiers: chr3:g.129251213T>C (hg19) ; chr3:g.129532370T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532370T>C , CM000665.2:g.129532370T>C	GRCh38
NC_000003.11:g.129251213T>C , CM000665.1:g.129251213T>C	GRCh37
NC_000003.10:g.130733903T>C	NCBI36
NG_009115.1:g.8732T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.650T>C MANE Select	ENSP00000296271.3:p.Ile217Thr
ENST00000296271.3:c.650T>C	ENSP00000296271.3:p.Ile217Thr
NM_000539.3:c.650T>C MANE Select	NP_000530.1:p.Ile217Thr