Canonical Allele Identifier: CA354498237
Gene: RHO HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.129249795C>G (hg19) chr3:g.129530952C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530952C>G , CM000665.2:g.129530952C>G GRCh38
NC_000003.11:g.129249795C>G , CM000665.1:g.129249795C>G GRCh37
NC_000003.10:g.130732485C>G NCBI36
NG_009115.1:g.7314C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.438C>G MANE Select ENSP00000296271.3:p.Phe146Leu
ENST00000296271.3:c.438C>G ENSP00000296271.3:p.Phe146Leu
NM_000539.3:c.438C>G MANE Select NP_000530.1:p.Phe146Leu
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