Canonical Allele Identifier: CA2607353
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1607748
ClinVar RCV Id: RCV002144816
dbSNP Id: rs548113513
ExAC: 3:129252504 C / T
gnomAD v2: 3-129252504-C-T
gnomAD v3: 3-129533661-C-T
gnomAD v4: 3-129533661-C-T
MyVariant Identifiers: chr3:g.129252504C>T (hg19) chr3:g.129533661C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129533661C>T , CM000665.2:g.129533661C>T GRCh38
NC_000003.11:g.129252504C>T , CM000665.1:g.129252504C>T GRCh37
NC_000003.10:g.130735194C>T NCBI36
NG_009115.1:g.10023C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.990C>T MANE Select ENSP00000296271.3:p.Asp330=
ENST00000296271.3:c.990C>T ENSP00000296271.3:p.Asp330=
NM_000539.3:c.990C>T MANE Select NP_000530.1:p.Asp330=
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