Canonical Allele Identifier: CA82647312
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs569952875
gnomAD v3: 3-129529405-A-G
gnomAD v4: 3-129529405-A-G
MyVariant Identifiers: chr3:g.129248248A>G (hg19) chr3:g.129529405A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529405A>G , CM000665.2:g.129529405A>G GRCh38
NC_000003.11:g.129248248A>G , CM000665.1:g.129248248A>G GRCh37
NC_000003.10:g.130730938A>G NCBI36
NG_009115.1:g.5767A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.361+311A>G MANE Select ENSP00000296271.3:n.361+311A>G
ENST00000296271.3:c.361+311A>G ENSP00000296271.3:n.361+311A>G
NM_000539.3:c.361+311A>G MANE Select NP_000530.1:n.361+311A>G
Search 100 bp 5'
Search 100 bp 3'