Canonical Allele Identifier: CA354498720
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 2831751
ClinVar RCV Id: RCV003686762
gnomAD v4: 3-129531025-C-A
MyVariant Identifiers: chr3:g.129249868C>A (hg19) chr3:g.129531025C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129531025C>A , CM000665.2:g.129531025C>A GRCh38
NC_000003.11:g.129249868C>A , CM000665.1:g.129249868C>A GRCh37
NC_000003.10:g.130732558C>A NCBI36
NG_009115.1:g.7387C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.511C>A MANE Select ENSP00000296271.3:p.Pro171Thr
ENST00000296271.3:c.511C>A ENSP00000296271.3:p.Pro171Thr
NM_000539.3:c.511C>A MANE Select NP_000530.1:p.Pro171Thr
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