Canonical Allele Identifier: CA2607110
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs757449302
ExAC: 3:129247896 C / A
gnomAD v2: 3-129247896-C-A
gnomAD v4: 3-129529053-C-A
MyVariant Identifiers: chr3:g.129247896C>A (hg19) chr3:g.129529053C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529053C>A , CM000665.2:g.129529053C>A GRCh38
NC_000003.11:g.129247896C>A , CM000665.1:g.129247896C>A GRCh37
NC_000003.10:g.130730586C>A NCBI36
NG_009115.1:g.5415C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.320C>A MANE Select ENSP00000296271.3:p.Pro107His
ENST00000296271.3:c.320C>A ENSP00000296271.3:p.Pro107His
NM_000539.3:c.320C>A MANE Select NP_000530.1:p.Pro107His
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