Canonical Allele Identifier: CA393995215
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-177010-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177010C>A , CM000678.2:g.177010C>A GRCh38
NC_000016.9:g.227009C>A , CM000678.1:g.227009C>A GRCh37
NC_000016.8:g.167009C>A NCBI36
NG_000006.1:g.37873C>A
NG_059186.1:g.5360C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.177C>A MANE Select ENSP00000322421.5:p.His59Gln
ENST00000397797.1:c.81C>A ENSP00000380899.1:p.His27Gln
ENST00000472694.1:n.313C>A
ENST00000487791.1:n.146C>A
NM_000558.4:c.177C>A NP_000549.1:p.His59Gln
NM_000558.5:c.177C>A MANE Select NP_000549.1:p.His59Gln