Canonical Allele Identifier: CA354471169
Gene: RHO HGNC NCBI

Linked Data

gnomAD v4: 3-129533654-T-G
MyVariant Identifiers: chr3:g.129252497T>G (hg19) chr3:g.129533654T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129533654T>G , CM000665.2:g.129533654T>G GRCh38
NC_000003.11:g.129252497T>G , CM000665.1:g.129252497T>G GRCh37
NC_000003.10:g.130735187T>G NCBI36
NG_009115.1:g.10016T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.983T>G MANE Select ENSP00000296271.3:p.Leu328Arg
ENST00000296271.3:c.983T>G ENSP00000296271.3:p.Leu328Arg
NM_000539.3:c.983T>G MANE Select NP_000530.1:p.Leu328Arg
Search 100 bp 5'
Search 100 bp 3'