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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:
CA124828
Gene: HBB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15156
ClinVar RCV Id:
RCV000016324
dbSNP Id:
rs33983205
ExAC:
11:5248244 T / C
gnomAD v2:
11-5248244-T-C
gnomAD v4:
11-5227014-T-C
MyVariant Identifiers:
chr11:g.5248244T>C (hg19)
chr11:g.5227014T>C (hg38)
PubMed:
PMID:1052174
PMID:3384712
PMID:5022448
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.5227014T>C , CM000673.2:g.5227014T>C
GRCh38
NC_000011.9:g.5248244T>C , CM000673.1:g.5248244T>C
GRCh37
NC_000011.8:g.5204820T>C
NCBI36
NG_000007.3:g.70602A>G
NG_059281.1:g.5058A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000647020.1:c.8A>G
ENSP00000494175.1:p.His3Arg
ENST00000335295.4:c.8A>G
MANE Select
ENSP00000333994.3:p.His3Arg
ENST00000380315.2:c.8A>G
ENSP00000369671.2:p.His3Arg
ENST00000485743.1:n.59A>G
ENST00000633227.1:c.8A>G
ENSP00000488004.1:p.His3Arg
NM_000518.4:c.8A>G
NP_000509.1:p.His3Arg
NM_000518.5:c.8A>G
MANE Select
NP_000509.1:p.His3Arg
Search 100 bp 5'
Search 100 bp 3'