Canonical Allele Identifier: CA2607072
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs779029199
ExAC: 3:129247747 C / T
gnomAD v2: 3-129247747-C-T
gnomAD v4: 3-129528904-C-T
MyVariant Identifiers: chr3:g.129247747C>T (hg19) chr3:g.129528904C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528904C>T , CM000665.2:g.129528904C>T GRCh38
NC_000003.11:g.129247747C>T , CM000665.1:g.129247747C>T GRCh37
NC_000003.10:g.130730437C>T NCBI36
NG_009115.1:g.5266C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.171C>T MANE Select ENSP00000296271.3:p.Leu57=
ENST00000296271.3:c.171C>T ENSP00000296271.3:p.Leu57=
NM_000539.3:c.171C>T MANE Select NP_000530.1:p.Leu57=
Search 100 bp 5'
Search 100 bp 3'