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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:
CA118567
Gene: TNFRSF11B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6970
ClinVar RCV Id:
RCV000007385
dbSNP Id:
rs104894091
MyVariant Identifiers:
chr8:g.119945310C>T (hg19)
chr8:g.118933071C>T (hg38)
PubMed:
PMID:14672344
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.118933071C>T , CM000670.2:g.118933071C>T
GRCh38
NC_000008.10:g.119945310C>T , CM000670.1:g.119945310C>T
GRCh37
NC_000008.9:g.120014491C>T
NCBI36
NG_012202.1:g.24074G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000297350.9:c.260G>A
MANE Select
ENSP00000297350.4:p.Cys87Tyr
ENST00000297350.8:c.260G>A
ENSP00000297350.4:p.Cys87Tyr
ENST00000517352.1:c.260G>A
ENSP00000427924.1:p.Cys87Tyr
NM_002546.3:c.260G>A
NP_002537.3:p.Cys87Tyr
NM_002546.4:c.260G>A
MANE Select
NP_002537.3:p.Cys87Tyr
Search 100 bp 5'
Search 100 bp 3'