Canonical Allele Identifier: CA2607139
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs772533932
ExAC: 3:129249700 C / G
gnomAD v2: 3-129249700-C-G
gnomAD v4: 3-129530857-C-G
MyVariant Identifiers: chr3:g.129249700C>G (hg19) chr3:g.129530857C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530857C>G , CM000665.2:g.129530857C>G GRCh38
NC_000003.11:g.129249700C>G , CM000665.1:g.129249700C>G GRCh37
NC_000003.10:g.130732390C>G NCBI36
NG_009115.1:g.7219C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.362-19C>G MANE Select ENSP00000296271.3:n.362-19C>G
ENST00000296271.3:c.362-19C>G ENSP00000296271.3:n.362-19C>G
NM_000539.3:c.362-19C>G MANE Select NP_000530.1:n.362-19C>G
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