Canonical Allele Identifier: CA2607033
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 900391
ClinVar RCV Id: RCV001145547 RCV001149880
dbSNP Id: rs771188148
ExAC: 3:129247553 G / T
gnomAD v2: 3-129247553-G-T
gnomAD v4: 3-129528710-G-T
MyVariant Identifiers: chr3:g.129247553G>T (hg19) chr3:g.129528710G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528710G>T , CM000665.2:g.129528710G>T GRCh38
NC_000003.11:g.129247553G>T , CM000665.1:g.129247553G>T GRCh37
NC_000003.10:g.130730243G>T NCBI36
NG_009115.1:g.5072G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.-24G>T MANE Select ENSP00000296271.3:n.-24G>T
ENST00000296271.3:c.-24G>T ENSP00000296271.3:n.-24G>T
NM_000539.3:c.-24G>T MANE Select NP_000530.1:n.-24G>T
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