×
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:
CA2630739998
Gene: HBA1
HGNC
NCBI
Linked Data
gnomAD v4:
16-177207-G-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.177207G>C , CM000678.2:g.177207G>C
GRCh38
NC_000016.9:g.227206G>C , CM000678.1:g.227206G>C
GRCh37
NC_000016.8:g.167206G>C
NCBI36
NG_000006.1:g.38070G>C
NG_059186.1:g.5557G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000320868.9:c.300+74G>C
MANE Select
ENSP00000322421.5:n.300+74G>C
ENST00000397797.1:c.204+74G>C
ENSP00000380899.1:n.204+74G>C
ENST00000472694.1:n.436+74G>C
ENST00000487791.1:n.343G>C
NM_000558.4:c.300+74G>C
NP_000549.1:n.300+74G>C
NM_000558.5:c.300+74G>C
MANE Select
NP_000549.1:n.300+74G>C
Search 100 bp 5'
Search 100 bp 3'