Canonical Allele Identifier: CA354496935
Gene: RHO HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.129247911T>G (hg19) chr3:g.129529068T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529068T>G , CM000665.2:g.129529068T>G GRCh38
NC_000003.11:g.129247911T>G , CM000665.1:g.129247911T>G GRCh37
NC_000003.10:g.130730601T>G NCBI36
NG_009115.1:g.5430T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.335T>G MANE Select ENSP00000296271.3:p.Leu112Trp
ENST00000296271.3:c.335T>G ENSP00000296271.3:p.Leu112Trp
NM_000539.3:c.335T>G MANE Select NP_000530.1:p.Leu112Trp
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