Canonical Allele Identifier: CA82620436
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1147756
ClinVar RCV Id: RCV001487373
dbSNP Id: rs1022242191
gnomAD v2: 3-129251139-C-T
gnomAD v3: 3-129532296-C-T
gnomAD v4: 3-129532296-C-T
MyVariant Identifiers: chr3:g.129251139C>T (hg19) chr3:g.129532296C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532296C>T , CM000665.2:g.129532296C>T GRCh38
NC_000003.11:g.129251139C>T , CM000665.1:g.129251139C>T GRCh37
NC_000003.10:g.130733829C>T NCBI36
NG_009115.1:g.8658C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.576C>T MANE Select ENSP00000296271.3:p.Tyr192=
ENST00000296271.3:c.576C>T ENSP00000296271.3:p.Tyr192=
NM_000539.3:c.576C>T MANE Select NP_000530.1:p.Tyr192=
Search 100 bp 5'
Search 100 bp 3'