Canonical Allele Identifier: CA354496970

Gene: RHO

Linked Data

• MyVariant Identifiers: chr3:g.129247919T>G (hg19) ; chr3:g.129529076T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129529076T>G , CM000665.2:g.129529076T>G	GRCh38
NC_000003.11:g.129247919T>G , CM000665.1:g.129247919T>G	GRCh37
NC_000003.10:g.130730609T>G	NCBI36
NG_009115.1:g.5438T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.343T>G MANE Select	ENSP00000296271.3:p.Phe115Val
ENST00000296271.3:c.343T>G	ENSP00000296271.3:p.Phe115Val
NM_000539.3:c.343T>G MANE Select	NP_000530.1:p.Phe115Val