Canonical Allele Identifier: CA2607327
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs778587340
ExAC: 3:129252401 A / C
gnomAD v3: 3-129533558-A-C
gnomAD v4: 3-129533558-A-C
MyVariant Identifiers: chr3:g.129252401A>C (hg19) chr3:g.129252401_129252415delinsCAGCACACTGTGGGC (hg19) chr3:g.129533558A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129533558A>C , CM000665.2:g.129533558A>C GRCh38
NC_000003.11:g.129252401A>C , CM000665.1:g.129252401A>C GRCh37
NC_000003.10:g.130735091A>C NCBI36
NG_009115.1:g.9920A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.937-50A>C MANE Select ENSP00000296271.3:n.937-50A>C
ENST00000296271.3:c.937-50A>C ENSP00000296271.3:n.937-50A>C
NM_000539.3:c.937-50A>C MANE Select NP_000530.1:n.937-50A>C
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