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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA256679
Gene: RHO
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13033
ClinVar RCV Id:
RCV000013908
RCV001074816
RCV001857346
dbSNP Id:
rs104893780
MyVariant Identifiers:
chr3:g.129251107G>A (hg19)
chr3:g.129532264G>A (hg38)
PubMed:
PMID:1897520
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.129532264G>A , CM000665.2:g.129532264G>A
GRCh38
NC_000003.11:g.129251107G>A , CM000665.1:g.129251107G>A
GRCh37
NC_000003.10:g.130733797G>A
NCBI36
NG_009115.1:g.8626G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000296271.4:c.544G>A
MANE Select
ENSP00000296271.3:p.Gly182Ser
ENST00000296271.3:c.544G>A
ENSP00000296271.3:p.Gly182Ser
NM_000539.3:c.544G>A
MANE Select
NP_000530.1:p.Gly182Ser
Search 100 bp 5'
Search 100 bp 3'