Canonical Allele Identifier: CA82647284
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs955355818
gnomAD v2: 3-129248199-G-A
gnomAD v3: 3-129529356-G-A
gnomAD v4: 3-129529356-G-A
MyVariant Identifiers: chr3:g.129248199G>A (hg19) chr3:g.129529356G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529356G>A , CM000665.2:g.129529356G>A GRCh38
NC_000003.11:g.129248199G>A , CM000665.1:g.129248199G>A GRCh37
NC_000003.10:g.130730889G>A NCBI36
NG_009115.1:g.5718G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.361+262G>A MANE Select ENSP00000296271.3:n.361+262G>A
ENST00000296271.3:c.361+262G>A ENSP00000296271.3:n.361+262G>A
NM_000539.3:c.361+262G>A MANE Select NP_000530.1:n.361+262G>A
Search 100 bp 5'
Search 100 bp 3'