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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:
CA125082
Gene: HBB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15298
ClinVar RCV Id:
RCV000016531
RCV003476896
dbSNP Id:
rs35854892
MyVariant Identifiers:
chr11:g.5246847A>C (hg19)
chr11:g.5225617A>C (hg38)
PubMed:
PMID:5492847
PMID:5780360
PMID:8579053
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.5225617A>C , CM000673.2:g.5225617A>C
GRCh38
NC_000011.9:g.5246847A>C , CM000673.1:g.5246847A>C
GRCh37
NC_000011.8:g.5203423A>C
NCBI36
NG_000007.3:g.71999T>G
NG_059281.1:g.6455T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000647020.1:c.425T>G
ENSP00000494175.1:p.Leu142Arg
ENST00000335295.4:c.425T>G
MANE Select
ENSP00000333994.3:p.Leu142Arg
ENST00000633227.1:c.*241T>G
ENSP00000488004.1:n.*241T>G
NM_000518.4:c.425T>G
NP_000509.1:p.Leu142Arg
NM_000518.5:c.425T>G
MANE Select
NP_000509.1:p.Leu142Arg
Search 100 bp 5'
Search 100 bp 3'