Canonical Allele Identifier: CA2607223
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs113751838
ExAC: 3:129251187 C / G
gnomAD v2: 3-129251187-C-G
gnomAD v4: 3-129532344-C-G
MyVariant Identifiers: chr3:g.129251187C>G (hg19) chr3:g.129532344C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532344C>G , CM000665.2:g.129532344C>G GRCh38
NC_000003.11:g.129251187C>G , CM000665.1:g.129251187C>G GRCh37
NC_000003.10:g.130733877C>G NCBI36
NG_009115.1:g.8706C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.624C>G MANE Select ENSP00000296271.3:p.Phe208Leu
ENST00000296271.3:c.624C>G ENSP00000296271.3:p.Phe208Leu
NM_000539.3:c.624C>G MANE Select NP_000530.1:p.Phe208Leu
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