Canonical Allele Identifier: CA2607089

Gene: RHO

Linked Data

• ClinVar Variation Id: 625300
• ClinVar RCV Id: RCV000767359 ; RCV001199742
• dbSNP Id: rs779169631
• ExAC: 3:129247794 A / G
• gnomAD v2: 3-129247794-A-G
• MyVariant Identifiers: chr3:g.129247794A>G (hg19) ; chr3:g.129528951A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528951A>G , CM000665.2:g.129528951A>G	GRCh38
NC_000003.11:g.129247794A>G , CM000665.1:g.129247794A>G	GRCh37
NC_000003.10:g.130730484A>G	NCBI36
NG_009115.1:g.5313A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.218A>G MANE Select	ENSP00000296271.3:p.Asn73Ser
ENST00000296271.3:c.218A>G	ENSP00000296271.3:p.Asn73Ser
NM_000539.3:c.218A>G MANE Select	NP_000530.1:p.Asn73Ser