Canonical Allele Identifier: CA435643836
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1578279658
gnomAD v4: 3-129530931-G-A
MyVariant Identifiers: chr3:g.129249774G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530931G>A , CM000665.2:g.129530931G>A GRCh38
NC_000003.11:g.129249774G>A , CM000665.1:g.129249774G>A GRCh37
NC_000003.10:g.130732464G>A NCBI36
NG_009115.1:g.7293G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.417G>A MANE Select ENSP00000296271.3:p.Val139=
ENST00000296271.3:c.417G>A ENSP00000296271.3:p.Val139=
NM_000539.3:c.417G>A MANE Select NP_000530.1:p.Val139=
Search 100 bp 5'
Search 100 bp 3'