Canonical Allele Identifier: CA393995633
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-177126-A-C
MyVariant Identifiers: chr16:g.227125A>C (hg19) chr16:g.177126A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177126A>C , CM000678.2:g.177126A>C GRCh38
NC_000016.9:g.227125A>C , CM000678.1:g.227125A>C GRCh37
NC_000016.8:g.167125A>C NCBI36
NG_000006.1:g.37989A>C
NG_059186.1:g.5476A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.293A>C MANE Select ENSP00000322421.5:p.Asn98Thr
ENST00000397797.1:c.197A>C ENSP00000380899.1:p.Asn66Thr
ENST00000472694.1:n.429A>C
ENST00000487791.1:n.262A>C
NM_000558.4:c.293A>C NP_000549.1:p.Asn98Thr
NM_000558.5:c.293A>C MANE Select NP_000549.1:p.Asn98Thr
Search 100 bp 5'
Search 100 bp 3'