Canonical Allele Identifier: CA354498234

Gene: RHO

Linked Data

• dbSNP Id: rs1269229442
• gnomAD v3: 3-129530952-C-A
• gnomAD v4: 3-129530952-C-A
• MyVariant Identifiers: chr3:g.129249795C>A (hg19) ; chr3:g.129530952C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530952C>A , CM000665.2:g.129530952C>A	GRCh38
NC_000003.11:g.129249795C>A , CM000665.1:g.129249795C>A	GRCh37
NC_000003.10:g.130732485C>A	NCBI36
NG_009115.1:g.7314C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.438C>A MANE Select	ENSP00000296271.3:p.Phe146Leu
ENST00000296271.3:c.438C>A	ENSP00000296271.3:p.Phe146Leu
NM_000539.3:c.438C>A MANE Select	NP_000530.1:p.Phe146Leu