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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:
CA125783
Gene: HBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15759
ClinVar RCV Id:
RCV001811177
dbSNP Id:
rs33911106
gnomAD v4:
16-177105-A-C
MyVariant Identifiers:
chr16:g.227104A>C (hg19)
chr16:g.177105A>C (hg38)
PubMed:
PMID:5129592
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.177105A>C , CM000678.2:g.177105A>C
GRCh38
NC_000016.9:g.227104A>C , CM000678.1:g.227104A>C
GRCh37
NC_000016.8:g.167104A>C
NCBI36
NG_000006.1:g.37968A>C
NG_059186.1:g.5455A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000320868.9:c.272A>C
MANE Select
ENSP00000322421.5:p.Lys91Thr
ENST00000397797.1:c.176A>C
ENSP00000380899.1:p.Lys59Thr
ENST00000472694.1:n.408A>C
ENST00000487791.1:n.241A>C
NM_000558.4:c.272A>C
NP_000549.1:p.Lys91Thr
NM_000558.5:c.272A>C
MANE Select
NP_000549.1:p.Lys91Thr
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