Canonical Allele Identifier: CA435623819
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1299921
ClinVar RCV Id: RCV001730356
dbSNP Id: rs1476179838
gnomAD v2: 3-129252495-A-T
gnomAD v3: 3-129533652-A-T
gnomAD v4: 3-129533652-A-T
MyVariant Identifiers: chr3:g.129252495A>T (hg19) chr3:g.129533652A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129533652A>T , CM000665.2:g.129533652A>T GRCh38
NC_000003.11:g.129252495A>T , CM000665.1:g.129252495A>T GRCh37
NC_000003.10:g.130735185A>T NCBI36
NG_009115.1:g.10014A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.981A>T MANE Select ENSP00000296271.3:p.Pro327=
ENST00000296271.3:c.981A>T ENSP00000296271.3:p.Pro327=
NM_000539.3:c.981A>T MANE Select NP_000530.1:p.Pro327=
Search 100 bp 5'
Search 100 bp 3'