Canonical Allele Identifier: CA2607304

Gene: RHO

Linked Data

• dbSNP Id: rs745616372
• ExAC: 3:129251573 C / G
• gnomAD v2: 3-129251573-C-G
• gnomAD v4: 3-129532730-C-G
• MyVariant Identifiers: chr3:g.129251573C>G (hg19) ; chr3:g.129532730C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532730C>G , CM000665.2:g.129532730C>G	GRCh38
NC_000003.11:g.129251573C>G , CM000665.1:g.129251573C>G	GRCh37
NC_000003.10:g.130734263C>G	NCBI36
NG_009115.1:g.9092C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.894C>G MANE Select	ENSP00000296271.3:p.Ala298=
ENST00000296271.3:c.894C>G	ENSP00000296271.3:p.Ala298=
NM_000539.3:c.894C>G MANE Select	NP_000530.1:p.Ala298=