Canonical Allele Identifier: CA435768850
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1518664
ClinVar RCV Id: RCV002024029
dbSNP Id: rs1476531540
gnomAD v2: 3-129247933-G-A
gnomAD v3: 3-129529090-G-A
gnomAD v4: 3-129529090-G-A
MyVariant Identifiers: chr3:g.129247933G>A (hg19) chr3:g.129529090G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529090G>A , CM000665.2:g.129529090G>A GRCh38
NC_000003.11:g.129247933G>A , CM000665.1:g.129247933G>A GRCh37
NC_000003.10:g.130730623G>A NCBI36
NG_009115.1:g.5452G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.357G>A MANE Select ENSP00000296271.3:p.Leu119=
ENST00000296271.3:c.357G>A ENSP00000296271.3:p.Leu119=
NM_000539.3:c.357G>A MANE Select NP_000530.1:p.Leu119=
Search 100 bp 5'
Search 100 bp 3'