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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:
CA125767
Gene: HBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15750
ClinVar RCV Id:
RCV000017059
RCV000017060
RCV000759778
dbSNP Id:
rs63749927
ExAC:
16:227343 C / A
gnomAD v2:
16-227343-C-A
gnomAD v3:
16-177344-C-A
gnomAD v4:
16-177344-C-A
MyVariant Identifiers:
chr16:g.227343C>A (hg19)
chr16:g.177344C>A (hg38)
PubMed:
PMID:4600474
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.177344C>A , CM000678.2:g.177344C>A
GRCh38
NC_000016.9:g.227343C>A , CM000678.1:g.227343C>A
GRCh37
NC_000016.8:g.167343C>A
NCBI36
NG_000006.1:g.38207C>A
NG_059186.1:g.5694C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000320868.9:c.362C>A
MANE Select
ENSP00000322421.5:p.Ala121Glu
ENST00000397797.1:c.266C>A
ENSP00000380899.1:p.Ala89Glu
ENST00000472694.1:n.498C>A
NM_000558.4:c.362C>A
NP_000549.1:p.Ala121Glu
NM_000558.5:c.362C>A
MANE Select
NP_000549.1:p.Ala121Glu
Search 100 bp 5'
Search 100 bp 3'