Canonical Allele Identifier: CA2607186
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs765139791
ExAC: 3:129249896 A / C
gnomAD v2: 3-129249896-A-C
gnomAD v4: 3-129531053-A-C
MyVariant Identifiers: chr3:g.129249896A>C (hg19) chr3:g.129531053A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129531053A>C , CM000665.2:g.129531053A>C GRCh38
NC_000003.11:g.129249896A>C , CM000665.1:g.129249896A>C GRCh37
NC_000003.10:g.130732586A>C NCBI36
NG_009115.1:g.7415A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.530+9A>C MANE Select ENSP00000296271.3:n.530+9A>C
ENST00000296271.3:c.530+9A>C ENSP00000296271.3:n.530+9A>C
NM_000539.3:c.530+9A>C MANE Select NP_000530.1:n.530+9A>C
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