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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:
CA125897
Gene: HBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15819
ClinVar RCV Id:
RCV000017161
RCV000017162
dbSNP Id:
rs34713708
gnomAD v4:
16-177320-A-G
MyVariant Identifiers:
chr16:g.227319A>G (hg19)
chr16:g.177320A>G (hg38)
PubMed:
PMID:1191675
PMID:1225585
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.177320A>G , CM000678.2:g.177320A>G
GRCh38
NC_000016.9:g.227319A>G , CM000678.1:g.227319A>G
GRCh37
NC_000016.8:g.167319A>G
NCBI36
NG_000006.1:g.38183A>G
NG_059186.1:g.5670A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000320868.9:c.338A>G
MANE Select
ENSP00000322421.5:p.His113Arg
ENST00000397797.1:c.242A>G
ENSP00000380899.1:p.His81Arg
ENST00000472694.1:n.474A>G
NM_000558.4:c.338A>G
NP_000549.1:p.His113Arg
NM_000558.5:c.338A>G
MANE Select
NP_000549.1:p.His113Arg
Search 100 bp 5'
Search 100 bp 3'