Canonical Allele Identifier: CA354469684

Gene: RHO

Linked Data

• MyVariant Identifiers: chr3:g.129251137T>C (hg19) ; chr3:g.129532294T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532294T>C , CM000665.2:g.129532294T>C	GRCh38
NC_000003.11:g.129251137T>C , CM000665.1:g.129251137T>C	GRCh37
NC_000003.10:g.130733827T>C	NCBI36
NG_009115.1:g.8656T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.574T>C MANE Select	ENSP00000296271.3:p.Tyr192His
ENST00000296271.3:c.574T>C	ENSP00000296271.3:p.Tyr192His
NM_000539.3:c.574T>C MANE Select	NP_000530.1:p.Tyr192His