Canonical Allele Identifier: CA354470386
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs2084789491
MyVariant Identifiers: chr3:g.129251475G>C (hg19) chr3:g.129532632G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532632G>C , CM000665.2:g.129532632G>C GRCh38
NC_000003.11:g.129251475G>C , CM000665.1:g.129251475G>C GRCh37
NC_000003.10:g.130734165G>C NCBI36
NG_009115.1:g.8994G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.796G>C MANE Select ENSP00000296271.3:p.Val266Leu
ENST00000296271.3:c.796G>C ENSP00000296271.3:p.Val266Leu
NM_000539.3:c.796G>C MANE Select NP_000530.1:p.Val266Leu
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