Canonical Allele Identifier: CA898750787

Gene: RHO

Linked Data

• dbSNP Id: rs1263966091
• gnomAD v3: 3-129529354-CTG-C
• gnomAD v4: 3-129529354-CTG-C
• MyVariant Identifiers: chr3:g.129248198_129248199del (hg19) ; chr3:g.129529355_129529356del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129529355_129529356del , CM000665.2:g.129529355_129529356del	GRCh38
NC_000003.11:g.129248198_129248199del , CM000665.1:g.129248198_129248199del	GRCh37
NC_000003.10:g.130730888_130730889del	NCBI36
NG_009115.1:g.5717_5718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.361+261_361+262del MANE Select	ENSP00000296271.3:n.361+261_361+262del
ENST00000296271.3:c.361+261_361+262del	ENSP00000296271.3:n.361+261_361+262del
NM_000539.3:c.361+261_361+262del MANE Select	NP_000530.1:n.361+261_361+262del