Canonical Allele Identifier: CA898752188

Gene: RHO

Linked Data

• dbSNP Id: rs1255285319
• MyVariant Identifiers: chr3:g.129249857_129249861del (hg19) ; chr3:g.129531014_129531018del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129531016_129531020del , CM000665.2:g.129531016_129531020del	GRCh38
NC_000003.11:g.129249859_129249863del , CM000665.1:g.129249859_129249863del	GRCh37
NC_000003.10:g.130732549_130732553del	NCBI36
NG_009115.1:g.7378_7382del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.502_506del MANE Select	ENSP00000296271.3:p.Ala168ThrfsTer?
ENST00000296271.3:c.502_506del	ENSP00000296271.3:p.Ala168ThrfsTer?
NM_000539.3:c.502_506del MANE Select	NP_000530.1:p.Ala168ThrfsTer?