Canonical Allele Identifier: CA354469925
Gene: RHO HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.129251203A>C (hg19) chr3:g.129532360A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532360A>C , CM000665.2:g.129532360A>C GRCh38
NC_000003.11:g.129251203A>C , CM000665.1:g.129251203A>C GRCh37
NC_000003.10:g.130733893A>C NCBI36
NG_009115.1:g.8722A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.640A>C MANE Select ENSP00000296271.3:p.Ile214Leu
ENST00000296271.3:c.640A>C ENSP00000296271.3:p.Ile214Leu
NM_000539.3:c.640A>C MANE Select NP_000530.1:p.Ile214Leu
Search 100 bp 5'
Search 100 bp 3'