Canonical Allele Identifier: CA435768998
Gene: RHO HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.129251199C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532356C>T , CM000665.2:g.129532356C>T GRCh38
NC_000003.11:g.129251199C>T , CM000665.1:g.129251199C>T GRCh37
NC_000003.10:g.130733889C>T NCBI36
NG_009115.1:g.8718C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.636C>T MANE Select ENSP00000296271.3:p.Phe212=
ENST00000296271.3:c.636C>T ENSP00000296271.3:p.Phe212=
NM_000539.3:c.636C>T MANE Select NP_000530.1:p.Phe212=