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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:
CA125120
Gene: HBB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15322
ClinVar RCV Id:
RCV001284491
dbSNP Id:
rs35117167
MyVariant Identifiers:
chr11:g.5246835T>C (hg19)
chr11:g.5225605T>C (hg38)
PubMed:
PMID:3839762
PMID:5026295
PMID:5280664
PMID:5282843
PMID:5347519
PMID:5796352
PMID:10335979
PMID:17795074
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.5225605T>C , CM000673.2:g.5225605T>C
GRCh38
NC_000011.9:g.5246835T>C , CM000673.1:g.5246835T>C
GRCh37
NC_000011.8:g.5203411T>C
NCBI36
NG_000007.3:g.72011A>G
NG_059281.1:g.6467A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000647020.1:c.437A>G
ENSP00000494175.1:p.Tyr146Cys
ENST00000335295.4:c.437A>G
MANE Select
ENSP00000333994.3:p.Tyr146Cys
ENST00000633227.1:c.*253A>G
ENSP00000488004.1:n.*253A>G
NM_000518.4:c.437A>G
NP_000509.1:p.Tyr146Cys
NM_000518.5:c.437A>G
MANE Select
NP_000509.1:p.Tyr146Cys
Search 100 bp 5'
Search 100 bp 3'