Canonical Allele Identifier: CA354499135

Gene: RHO

Linked Data

• MyVariant Identifiers: chr3:g.129251106G>T (hg19) ; chr3:g.129532263G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532263G>T , CM000665.2:g.129532263G>T	GRCh38
NC_000003.11:g.129251106G>T , CM000665.1:g.129251106G>T	GRCh37
NC_000003.10:g.130733796G>T	NCBI36
NG_009115.1:g.8625G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.543G>T MANE Select	ENSP00000296271.3:p.Glu181Asp
ENST00000296271.3:c.543G>T	ENSP00000296271.3:p.Glu181Asp
NM_000539.3:c.543G>T MANE Select	NP_000530.1:p.Glu181Asp