Canonical Allele Identifier: CA393995951
Gene: HBA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177351C>A , CM000678.2:g.177351C>A GRCh38
NC_000016.9:g.227350C>A , CM000678.1:g.227350C>A GRCh37
NC_000016.8:g.167350C>A NCBI36
NG_000006.1:g.38214C>A
NG_059186.1:g.5701C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.369C>A MANE Select ENSP00000322421.5:p.His123Gln
ENST00000397797.1:c.273C>A ENSP00000380899.1:p.His91Gln
ENST00000472694.1:n.505C>A
NM_000558.4:c.369C>A NP_000549.1:p.His123Gln
NM_000558.5:c.369C>A MANE Select NP_000549.1:p.His123Gln