Canonical Allele Identifier: CA354496965

Gene: RHO

Linked Data

• ClinVar Variation Id: 866113
• ClinVar RCV Id: RCV001073876 ; RCV003558653
• dbSNP Id: rs104893788
• MyVariant Identifiers: chr3:g.129247917G>T (hg19) ; chr3:g.129529074G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129529074G>T , CM000665.2:g.129529074G>T	GRCh38
NC_000003.11:g.129247917G>T , CM000665.1:g.129247917G>T	GRCh37
NC_000003.10:g.130730607G>T	NCBI36
NG_009115.1:g.5436G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.341G>T MANE Select	ENSP00000296271.3:p.Gly114Val
ENST00000296271.3:c.341G>T	ENSP00000296271.3:p.Gly114Val
NM_000539.3:c.341G>T MANE Select	NP_000530.1:p.Gly114Val