Canonical Allele Identifier: CA256695
Gene: RHO HGNC NCBI
MaveDb:
Score 0.1184837979
MyVariant.info:
GRCh38 chr3:g.129528800C>G
GRCh37 chr3:g.129247643C>G
Revel Score:
ENST00000296271 (MANE Select) 0.986
ClinVar RCV:
RCV000013930
ClinVar Variation:
13055
dbSNP:
104893797
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528800C>G , CM000665.2:g.129528800C>G GRCh38
NC_000003.11:g.129247643C>G , CM000665.1:g.129247643C>G GRCh37
NC_000003.10:g.130730333C>G NCBI36
NG_009115.1:g.5162C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.67C>G MANE Select ENSP00000296271.3:p.Pro23Ala
ENST00000296271.3:c.67C>G ENSP00000296271.3:p.Pro23Ala
NM_000539.3:c.67C>G MANE Select NP_000530.1:p.Pro23Ala
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