Canonical Allele Identifier: CA2607108
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs758484916
ExAC: 3:129247888 C / T
gnomAD v2: 3-129247888-C-T
gnomAD v4: 3-129529045-C-T
MyVariant Identifiers: chr3:g.129247888C>T (hg19) chr3:g.129529045C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529045C>T , CM000665.2:g.129529045C>T GRCh38
NC_000003.11:g.129247888C>T , CM000665.1:g.129247888C>T GRCh37
NC_000003.10:g.130730578C>T NCBI36
NG_009115.1:g.5407C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.312C>T MANE Select ENSP00000296271.3:p.Val104=
ENST00000296271.3:c.312C>T ENSP00000296271.3:p.Val104=
NM_000539.3:c.312C>T MANE Select NP_000530.1:p.Val104=
Search 100 bp 5'
Search 100 bp 3'