Canonical Allele Identifier: CA393995640
Gene: HBA1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.293A>T MANE Select ENSP00000322421.5:p.Asn98Ile
ENST00000397797.1:c.197A>T ENSP00000380899.1:p.Asn66Ile
ENST00000472694.1:n.429A>T
ENST00000487791.1:n.262A>T
NM_000558.4:c.293A>T NP_000549.1:p.Asn98Ile
NM_000558.5:c.293A>T MANE Select NP_000549.1:p.Asn98Ile