Canonical Allele Identifier: CA2200883027
Gene: HBA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177002A= , CM000678.2:g.177002A= GRCh38
NC_000016.9:g.227001A= , CM000678.1:g.227001A= GRCh37
NC_000016.8:g.167001A= NCBI36
NG_000006.1:g.37865A=
NG_059186.1:g.5352A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.169A= MANE Select ENSP00000322421.5:p.Lys57=
ENST00000397797.1:c.73A= ENSP00000380899.1:p.Lys25=
ENST00000472694.1:n.305A=
ENST00000487791.1:n.138A=
NM_000558.4:c.169A= NP_000549.1:p.Lys57=
NM_000558.5:c.169A= MANE Select NP_000549.1:p.Lys57=