Canonical Allele Identifier: CA546228444
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1225199401
gnomAD v2: 3-129250951-CCTGT-C
gnomAD v3: 3-129532108-CCTGT-C
gnomAD v4: 3-129532108-CCTGT-C
MyVariant Identifiers: chr3:g.129250952_129250955del (hg19) chr3:g.129532109_129532112del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532110_129532113del , CM000665.2:g.129532110_129532113del GRCh38
NC_000003.11:g.129250953_129250956del , CM000665.1:g.129250953_129250956del GRCh37
NC_000003.10:g.130733643_130733646del NCBI36
NG_009115.1:g.8472_8475del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.531-141_531-138del MANE Select ENSP00000296271.3:n.531-141_531-138del
ENST00000296271.3:c.531-141_531-138del ENSP00000296271.3:n.531-141_531-138del
NM_000539.3:c.531-141_531-138del MANE Select NP_000530.1:n.531-141_531-138del
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