Canonical Allele Identifier: CA354496913
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 635416
ClinVar RCV Id: RCV000786865
dbSNP Id: rs1578278438
MyVariant Identifiers: chr3:g.129247904T>G (hg19) chr3:g.129529061T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529061T>G , CM000665.2:g.129529061T>G GRCh38
NC_000003.11:g.129247904T>G , CM000665.1:g.129247904T>G GRCh37
NC_000003.10:g.130730594T>G NCBI36
NG_009115.1:g.5423T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.328T>G MANE Select ENSP00000296271.3:p.Cys110Gly
ENST00000296271.3:c.328T>G ENSP00000296271.3:p.Cys110Gly
NM_000539.3:c.328T>G MANE Select NP_000530.1:p.Cys110Gly
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