Canonical Allele Identifier: CA354496313

Gene: RHO

Linked Data

• MyVariant Identifiers: chr3:g.129247791T>A (hg19) ; chr3:g.129528948T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528948T>A , CM000665.2:g.129528948T>A	GRCh38
NC_000003.11:g.129247791T>A , CM000665.1:g.129247791T>A	GRCh37
NC_000003.10:g.130730481T>A	NCBI36
NG_009115.1:g.5310T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.215T>A MANE Select	ENSP00000296271.3:p.Leu72His
ENST00000296271.3:c.215T>A	ENSP00000296271.3:p.Leu72His
NM_000539.3:c.215T>A MANE Select	NP_000530.1:p.Leu72His