Canonical Allele Identifier: CA2607097

Gene: RHO

Linked Data

• dbSNP Id: rs769544430
• ExAC: 3:129247822 T / C
• gnomAD v2: 3-129247822-T-C
• gnomAD v3: 3-129528979-T-C
• gnomAD v4: 3-129528979-T-C
• MyVariant Identifiers: chr3:g.129247822T>C (hg19) ; chr3:g.129528979T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528979T>C , CM000665.2:g.129528979T>C	GRCh38
NC_000003.11:g.129247822T>C , CM000665.1:g.129247822T>C	GRCh37
NC_000003.10:g.130730512T>C	NCBI36
NG_009115.1:g.5341T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.246T>C MANE Select	ENSP00000296271.3:p.Ala82=
ENST00000296271.3:c.246T>C	ENSP00000296271.3:p.Ala82=
NM_000539.3:c.246T>C MANE Select	NP_000530.1:p.Ala82=