Canonical Allele Identifier: CA2667616874
Gene: RHO HGNC NCBI

Linked Data

gnomAD v4: 3-129532314-CA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532316del , CM000665.2:g.129532316del GRCh38
NC_000003.11:g.129251159del , CM000665.1:g.129251159del GRCh37
NC_000003.10:g.130733849del NCBI36
NG_009115.1:g.8678del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.596del MANE Select ENSP00000296271.3:p.Asn199ThrfsTer18
ENST00000296271.3:c.596del ENSP00000296271.3:p.Asn199ThrfsTer18
NM_000539.3:c.596del MANE Select NP_000530.1:p.Asn199ThrfsTer18
Search 100 bp 5'
Search 100 bp 3'