Canonical Allele Identifier: CA82649647
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs749280021
gnomAD v4: 3-129532104-CCATCCTGT-C
MyVariant Identifiers: chr3:g.129250948_129250955del (hg19) chr3:g.129532105_129532112del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532107_129532114del , CM000665.2:g.129532107_129532114del GRCh38
NC_000003.11:g.129250950_129250957del , CM000665.1:g.129250950_129250957del GRCh37
NC_000003.10:g.130733640_130733647del NCBI36
NG_009115.1:g.8469_8476del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.531-144_531-137del MANE Select ENSP00000296271.3:n.531-144_531-137del
ENST00000296271.3:c.531-144_531-137del ENSP00000296271.3:n.531-144_531-137del
NM_000539.3:c.531-144_531-137del MANE Select NP_000530.1:n.531-144_531-137del
Search 100 bp 5'
Search 100 bp 3'