Canonical Allele Identifier: CA2200883028
Gene: HBA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177003A= , CM000678.2:g.177003A= GRCh38
NC_000016.9:g.227002A= , CM000678.1:g.227002A= GRCh37
NC_000016.8:g.167002A= NCBI36
NG_000006.1:g.37866A=
NG_059186.1:g.5353A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.170A= MANE Select ENSP00000322421.5:p.Lys57=
ENST00000397797.1:c.74A= ENSP00000380899.1:p.Lys25=
ENST00000472694.1:n.306A=
ENST00000487791.1:n.139A=
NM_000558.4:c.170A= NP_000549.1:p.Lys57=
NM_000558.5:c.170A= MANE Select NP_000549.1:p.Lys57=