Canonical Allele Identifier: CA898751263
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1202404945
gnomAD v3: 3-129530521-AC-A
gnomAD v4: 3-129530521-AC-A
MyVariant Identifiers: chr3:g.129249365del (hg19) chr3:g.129530522del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530522del , CM000665.2:g.129530522del GRCh38
NC_000003.11:g.129249365del , CM000665.1:g.129249365del GRCh37
NC_000003.10:g.130732055del NCBI36
NG_009115.1:g.6884del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.362-354del MANE Select ENSP00000296271.3:n.362-354del
ENST00000296271.3:c.362-354del ENSP00000296271.3:n.362-354del
NM_000539.3:c.362-354del MANE Select NP_000530.1:n.362-354del
Search 100 bp 5'
Search 100 bp 3'