Canonical Allele Identifier: CA354496798

Gene: RHO

Linked Data

• ClinVar Variation Id: 625301
• ClinVar RCV Id: RCV000767360 ; RCV003558565
• dbSNP Id: rs759945007
• MyVariant Identifiers: chr3:g.129247878G>T (hg19) ; chr3:g.129529035G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129529035G>T , CM000665.2:g.129529035G>T	GRCh38
NC_000003.11:g.129247878G>T , CM000665.1:g.129247878G>T	GRCh37
NC_000003.10:g.130730568G>T	NCBI36
NG_009115.1:g.5397G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.302G>T MANE Select	ENSP00000296271.3:p.Gly101Val
ENST00000296271.3:c.302G>T	ENSP00000296271.3:p.Gly101Val
NM_000539.3:c.302G>T MANE Select	NP_000530.1:p.Gly101Val