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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:
CA125841
Gene: HBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15790
ClinVar RCV Id:
RCV000017121
RCV000017122
RCV000017123
RCV000017124
dbSNP Id:
rs36062788
gnomAD v4:
16-177006-G-A
MyVariant Identifiers:
chr16:g.227005G>A (hg19)
chr16:g.177006G>A (hg38)
PubMed:
PMID:5782754
PMID:5927878
PMID:13572830
PMID:13863929
PMID:13955802
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.177006G>A , CM000678.2:g.177006G>A
GRCh38
NC_000016.9:g.227005G>A , CM000678.1:g.227005G>A
GRCh37
NC_000016.8:g.167005G>A
NCBI36
NG_000006.1:g.37869G>A
NG_059186.1:g.5356G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000320868.9:c.173G>A
MANE Select
ENSP00000322421.5:p.Gly58Asp
ENST00000397797.1:c.77G>A
ENSP00000380899.1:p.Gly26Asp
ENST00000472694.1:n.309G>A
ENST00000487791.1:n.142G>A
NM_000558.4:c.173G>A
NP_000549.1:p.Gly58Asp
NM_000558.5:c.173G>A
MANE Select
NP_000549.1:p.Gly58Asp
Search 100 bp 5'
Search 100 bp 3'