Canonical Allele Identifier: CA354495921
Gene: RHO HGNC NCBI

Linked Data

gnomAD v4: 3-129528877-C-G
MyVariant Identifiers: chr3:g.129247720C>G (hg19) chr3:g.129528877C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528877C>G , CM000665.2:g.129528877C>G GRCh38
NC_000003.11:g.129247720C>G , CM000665.1:g.129247720C>G GRCh37
NC_000003.10:g.130730410C>G NCBI36
NG_009115.1:g.5239C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.144C>G MANE Select ENSP00000296271.3:p.Ile48Met
ENST00000296271.3:c.144C>G ENSP00000296271.3:p.Ile48Met
NM_000539.3:c.144C>G MANE Select NP_000530.1:p.Ile48Met
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