Canonical Allele Identifier: CA354496886
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 2783929
ClinVar RCV Id: RCV003660064
dbSNP Id: rs1209988233
gnomAD v3: 3-129529055-A-G
gnomAD v4: 3-129529055-A-G
MyVariant Identifiers: chr3:g.129247898A>G (hg19) chr3:g.129529055A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529055A>G , CM000665.2:g.129529055A>G GRCh38
NC_000003.11:g.129247898A>G , CM000665.1:g.129247898A>G GRCh37
NC_000003.10:g.130730588A>G NCBI36
NG_009115.1:g.5417A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.322A>G MANE Select ENSP00000296271.3:p.Thr108Ala
ENST00000296271.3:c.322A>G ENSP00000296271.3:p.Thr108Ala
NM_000539.3:c.322A>G MANE Select NP_000530.1:p.Thr108Ala
Search 100 bp 5'
Search 100 bp 3'