Canonical Allele Identifier: CA2200883026
Gene: HBA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177001T= , CM000678.2:g.177001T= GRCh38
NC_000016.9:g.227000T= , CM000678.1:g.227000T= GRCh37
NC_000016.8:g.167000T= NCBI36
NG_000006.1:g.37864T=
NG_059186.1:g.5351T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.168T= MANE Select ENSP00000322421.5:p.Val56=
ENST00000397797.1:c.72T= ENSP00000380899.1:p.Val24=
ENST00000472694.1:n.304T=
ENST00000487791.1:n.137T=
NM_000558.4:c.168T= NP_000549.1:p.Val56=
NM_000558.5:c.168T= MANE Select NP_000549.1:p.Val56=