Canonical Allele Identifier: CA2607070

Gene: RHO

Linked Data

• ClinVar Variation Id: 343274
• ClinVar RCV Id: RCV000279557 ; RCV000336890 ; RCV000968011
• dbSNP Id: rs149079952
• ExAC: 3:129247728 G / C
• gnomAD v2: 3-129247728-G-C
• gnomAD v3: 3-129528885-G-C
• gnomAD v4: 3-129528885-G-C
• MyVariant Identifiers: chr3:g.129247728G>C (hg19) ; chr3:g.129528885G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528885G>C , CM000665.2:g.129528885G>C	GRCh38
NC_000003.11:g.129247728G>C , CM000665.1:g.129247728G>C	GRCh37
NC_000003.10:g.130730418G>C	NCBI36
NG_009115.1:g.5247G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.152G>C MANE Select	ENSP00000296271.3:p.Gly51Ala
ENST00000296271.3:c.152G>C	ENSP00000296271.3:p.Gly51Ala
NM_000539.3:c.152G>C MANE Select	NP_000530.1:p.Gly51Ala