Canonical Allele Identifier: CA354496937
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs2108749340
MyVariant Identifiers: chr3:g.129247912G>C (hg19) chr3:g.129529069G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529069G>C , CM000665.2:g.129529069G>C GRCh38
NC_000003.11:g.129247912G>C , CM000665.1:g.129247912G>C GRCh37
NC_000003.10:g.130730602G>C NCBI36
NG_009115.1:g.5431G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.336G>C MANE Select ENSP00000296271.3:p.Leu112Phe
ENST00000296271.3:c.336G>C ENSP00000296271.3:p.Leu112Phe
NM_000539.3:c.336G>C MANE Select NP_000530.1:p.Leu112Phe
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