Canonical Allele Identifier: CA354470274

Gene: RHO

Linked Data

• dbSNP Id: rs104893783
• gnomAD v2: 3-129251424-G-A
• gnomAD v4: 3-129532581-G-A
• MyVariant Identifiers: chr3:g.129251424G>A (hg19) ; chr3:g.129532581G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532581G>A , CM000665.2:g.129532581G>A	GRCh38
NC_000003.11:g.129251424G>A , CM000665.1:g.129251424G>A	GRCh37
NC_000003.10:g.130734114G>A	NCBI36
NG_009115.1:g.8943G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.745G>A MANE Select	ENSP00000296271.3:p.Glu249Lys
ENST00000296271.3:c.745G>A	ENSP00000296271.3:p.Glu249Lys
NM_000539.3:c.745G>A MANE Select	NP_000530.1:p.Glu249Lys