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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:
CA2607077
Gene: RHO
HGNC
NCBI
Linked Data
ClinVar Variation Id:
625298
ClinVar RCV Id:
RCV000767357
dbSNP Id:
rs771007146
ExAC:
3:129247754 T / C
gnomAD v2:
3-129247754-T-C
gnomAD v3:
3-129528911-T-C
gnomAD v4:
3-129528911-T-C
MyVariant Identifiers:
chr3:g.129247754T>C (hg19)
chr3:g.129528911T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.129528911T>C , CM000665.2:g.129528911T>C
GRCh38
NC_000003.11:g.129247754T>C , CM000665.1:g.129247754T>C
GRCh37
NC_000003.10:g.130730444T>C
NCBI36
NG_009115.1:g.5273T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000296271.4:c.178T>C
MANE Select
ENSP00000296271.3:p.Tyr60His
ENST00000296271.3:c.178T>C
ENSP00000296271.3:p.Tyr60His
NM_000539.3:c.178T>C
MANE Select
NP_000530.1:p.Tyr60His
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