Canonical Allele Identifier: CA2607132
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs780060597
ExAC: 3:129247974 G / A
gnomAD v2: 3-129247974-G-A
gnomAD v3: 3-129529131-G-A
gnomAD v4: 3-129529131-G-A
MyVariant Identifiers: chr3:g.129247974G>A (hg19) chr3:g.129529131G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529131G>A , CM000665.2:g.129529131G>A GRCh38
NC_000003.11:g.129247974G>A , CM000665.1:g.129247974G>A GRCh37
NC_000003.10:g.130730664G>A NCBI36
NG_009115.1:g.5493G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.361+37G>A MANE Select ENSP00000296271.3:n.361+37G>A
ENST00000296271.3:c.361+37G>A ENSP00000296271.3:n.361+37G>A
NM_000539.3:c.361+37G>A MANE Select NP_000530.1:n.361+37G>A
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