Canonical Allele Identifier: CA354497030

Gene: RHO

Linked Data

• dbSNP Id: rs1356947962
• gnomAD v2: 3-129247934-G-T
• gnomAD v4: 3-129529091-G-T
• MyVariant Identifiers: chr3:g.129247934G>T (hg19) ; chr3:g.129529091G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129529091G>T , CM000665.2:g.129529091G>T	GRCh38
NC_000003.11:g.129247934G>T , CM000665.1:g.129247934G>T	GRCh37
NC_000003.10:g.130730624G>T	NCBI36
NG_009115.1:g.5453G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.358G>T MANE Select	ENSP00000296271.3:p.Gly120Cys
ENST00000296271.3:c.358G>T	ENSP00000296271.3:p.Gly120Cys
NM_000539.3:c.358G>T MANE Select	NP_000530.1:p.Gly120Cys