Canonical Allele Identifier: CA354498253

Gene: RHO

Linked Data

• MyVariant Identifiers: chr3:g.129249797G>T (hg19) ; chr3:g.129530954G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530954G>T , CM000665.2:g.129530954G>T	GRCh38
NC_000003.11:g.129249797G>T , CM000665.1:g.129249797G>T	GRCh37
NC_000003.10:g.130732487G>T	NCBI36
NG_009115.1:g.7316G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.440G>T MANE Select	ENSP00000296271.3:p.Arg147Leu
ENST00000296271.3:c.440G>T	ENSP00000296271.3:p.Arg147Leu
NM_000539.3:c.440G>T MANE Select	NP_000530.1:p.Arg147Leu