Canonical Allele Identifier: CA256685

Gene: RHO

Linked Data

• ClinVar Variation Id: 13042
• ClinVar RCV Id: RCV000013917 ; RCV000132598 ; RCV001203907
• dbSNP Id: rs104893786
• gnomAD v4: 3-129528777-A-G
• MyVariant Identifiers: chr3:g.129247620A>G (hg19) ; chr3:g.129528777A>G (hg38)
• PubMed: PMID:8240107 ; PMID:8353500

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528777A>G , CM000665.2:g.129528777A>G	GRCh38
NC_000003.11:g.129247620A>G , CM000665.1:g.129247620A>G	GRCh37
NC_000003.10:g.130730310A>G	NCBI36
NG_009115.1:g.5139A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.44A>G MANE Select	ENSP00000296271.3:p.Asn15Ser
ENST00000296271.3:c.44A>G	ENSP00000296271.3:p.Asn15Ser
NM_000539.3:c.44A>G MANE Select	NP_000530.1:p.Asn15Ser