Canonical Allele Identifier: CA354470070
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs781465927
gnomAD v2: 3-129251242-G-T
gnomAD v3: 3-129532399-G-T
gnomAD v4: 3-129532399-G-T
MyVariant Identifiers: chr3:g.129251242G>T (hg19) chr3:g.129532399G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532399G>T , CM000665.2:g.129532399G>T GRCh38
NC_000003.11:g.129251242G>T , CM000665.1:g.129251242G>T GRCh37
NC_000003.10:g.130733932G>T NCBI36
NG_009115.1:g.8761G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.679G>T MANE Select ENSP00000296271.3:p.Val227Phe
ENST00000296271.3:c.679G>T ENSP00000296271.3:p.Val227Phe
NM_000539.3:c.679G>T MANE Select NP_000530.1:p.Val227Phe
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