Canonical Allele Identifier: CA435623820
Gene: RHO HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.129252496C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129533653C>T , CM000665.2:g.129533653C>T GRCh38
NC_000003.11:g.129252496C>T , CM000665.1:g.129252496C>T GRCh37
NC_000003.10:g.130735186C>T NCBI36
NG_009115.1:g.10015C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.982C>T MANE Select ENSP00000296271.3:p.Leu328=
ENST00000296271.3:c.982C>T ENSP00000296271.3:p.Leu328=
NM_000539.3:c.982C>T MANE Select NP_000530.1:p.Leu328=