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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:
CA276416751
Gene: HBA1
HGNC
NCBI
Linked Data
dbSNP Id:
rs281864501
MyVariant Identifiers:
chr16:g.226983C>T (hg19)
chr16:g.176984C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.176984C>T , CM000678.2:g.176984C>T
GRCh38
NC_000016.9:g.226983C>T , CM000678.1:g.226983C>T
GRCh37
NC_000016.8:g.166983C>T
NCBI36
NG_000006.1:g.37847C>T
NG_059186.1:g.5334C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000320868.9:c.151C>T
MANE Select
ENSP00000322421.5:p.His51Tyr
ENST00000397797.1:c.55C>T
ENSP00000380899.1:p.His19Tyr
ENST00000472694.1:n.287C>T
ENST00000487791.1:n.120C>T
NM_000558.4:c.151C>T
NP_000549.1:p.His51Tyr
NM_000558.5:c.151C>T
MANE Select
NP_000549.1:p.His51Tyr
Search 100 bp 5'
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