Canonical Allele Identifier: CA354470348

Gene: RHO

Linked Data

• COSMIC: COSM4113349
• MyVariant Identifiers: chr3:g.129251458C>T (hg19) ; chr3:g.129532615C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532615C>T , CM000665.2:g.129532615C>T	GRCh38
NC_000003.11:g.129251458C>T , CM000665.1:g.129251458C>T	GRCh37
NC_000003.10:g.130734148C>T	NCBI36
NG_009115.1:g.8977C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.779C>T MANE Select	ENSP00000296271.3:p.Ala260Val
ENST00000296271.3:c.779C>T	ENSP00000296271.3:p.Ala260Val
NM_000539.3:c.779C>T MANE Select	NP_000530.1:p.Ala260Val