×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA256680
Gene: RHO
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13034
ClinVar RCV Id:
RCV000013909
RCV001003172
RCV001582479
dbSNP Id:
rs104893781
gnomAD v4:
3-129532636-C-T
MyVariant Identifiers:
chr3:g.129251479C>T (hg19)
chr3:g.129532636C>T (hg38)
PubMed:
PMID:1897520
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.129532636C>T , CM000665.2:g.129532636C>T
GRCh38
NC_000003.11:g.129251479C>T , CM000665.1:g.129251479C>T
GRCh37
NC_000003.10:g.130734169C>T
NCBI36
NG_009115.1:g.8998C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000296271.4:c.800C>T
MANE Select
ENSP00000296271.3:p.Pro267Leu
ENST00000296271.3:c.800C>T
ENSP00000296271.3:p.Pro267Leu
NM_000539.3:c.800C>T
MANE Select
NP_000530.1:p.Pro267Leu
Search 100 bp 5'
Search 100 bp 3'