Canonical Allele Identifier: CA354498271

Gene: RHO

Linked Data

• dbSNP Id: rs780408367
• gnomAD v4: 3-129530959-G-T
• MyVariant Identifiers: chr3:g.129249802G>T (hg19) ; chr3:g.129530959G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530959G>T , CM000665.2:g.129530959G>T	GRCh38
NC_000003.11:g.129249802G>T , CM000665.1:g.129249802G>T	GRCh37
NC_000003.10:g.130732492G>T	NCBI36
NG_009115.1:g.7321G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.445G>T MANE Select	ENSP00000296271.3:p.Gly149Trp
ENST00000296271.3:c.445G>T	ENSP00000296271.3:p.Gly149Trp
NM_000539.3:c.445G>T MANE Select	NP_000530.1:p.Gly149Trp