Canonical Allele Identifier: CA82620909
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs940777503
gnomAD v3: 3-129532888-T-G
gnomAD v4: 3-129532888-T-G
MyVariant Identifiers: chr3:g.129251731T>G (hg19) chr3:g.129532888T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532888T>G , CM000665.2:g.129532888T>G GRCh38
NC_000003.11:g.129251731T>G , CM000665.1:g.129251731T>G GRCh37
NC_000003.10:g.130734421T>G NCBI36
NG_009115.1:g.9250T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.936+116T>G MANE Select ENSP00000296271.3:n.936+116T>G
ENST00000296271.3:c.936+116T>G ENSP00000296271.3:n.936+116T>G
NM_000539.3:c.936+116T>G MANE Select NP_000530.1:n.936+116T>G
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