×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA125793
Gene: HBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15765
ClinVar RCV Id:
RCV000017076
RCV000759776
dbSNP Id:
rs34090856
gnomAD v2:
16-226732-C-A
gnomAD v3:
16-176733-C-A
gnomAD v4:
16-176733-C-A
MyVariant Identifiers:
chr16:g.226732C>A (hg19)
chr16:g.176733C>A (hg38)
PubMed:
PMID:5870555
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.176733C>A , CM000678.2:g.176733C>A
GRCh38
NC_000016.9:g.226732C>A , CM000678.1:g.226732C>A
GRCh37
NC_000016.8:g.166732C>A
NCBI36
NG_000006.1:g.37596C>A
NG_059186.1:g.5083C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000320868.9:c.17C>A
MANE Select
ENSP00000322421.5:p.Ala6Asp
ENST00000397797.1:c.-31C>A
ENSP00000380899.1:n.-31C>A
ENST00000472694.1:n.36C>A
NM_000558.4:c.17C>A
NP_000549.1:p.Ala6Asp
NM_000558.5:c.17C>A
MANE Select
NP_000549.1:p.Ala6Asp
Search 100 bp 5'
Search 100 bp 3'