Canonical Allele Identifier: CA354497858

Gene: RHO

Linked Data

• MyVariant Identifiers: chr3:g.129249724A>T (hg19) ; chr3:g.129530881A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530881A>T , CM000665.2:g.129530881A>T	GRCh38
NC_000003.11:g.129249724A>T , CM000665.1:g.129249724A>T	GRCh37
NC_000003.10:g.130732414A>T	NCBI36
NG_009115.1:g.7243A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.367A>T MANE Select	ENSP00000296271.3:p.Ile123Phe
ENST00000296271.3:c.367A>T	ENSP00000296271.3:p.Ile123Phe
NM_000539.3:c.367A>T MANE Select	NP_000530.1:p.Ile123Phe