Canonical Allele Identifier: CA546212154
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1264004508
gnomAD v2: 3-129252418-C-G
gnomAD v3: 3-129533575-C-G
gnomAD v4: 3-129533575-C-G
MyVariant Identifiers: chr3:g.129252418C>G (hg19) chr3:g.129533575C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129533575C>G , CM000665.2:g.129533575C>G GRCh38
NC_000003.11:g.129252418C>G , CM000665.1:g.129252418C>G GRCh37
NC_000003.10:g.130735108C>G NCBI36
NG_009115.1:g.9937C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.937-33C>G MANE Select ENSP00000296271.3:n.937-33C>G
ENST00000296271.3:c.937-33C>G ENSP00000296271.3:n.937-33C>G
NM_000539.3:c.937-33C>G MANE Select NP_000530.1:n.937-33C>G
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