Canonical Allele Identifier: CA2200883293
Gene: HBA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177367T= , CM000678.2:g.177367T= GRCh38
NC_000016.9:g.227366T= , CM000678.1:g.227366T= GRCh37
NC_000016.8:g.167366T= NCBI36
NG_000006.1:g.38230T=
NG_059186.1:g.5717T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.385T= MANE Select ENSP00000322421.5:p.Phe129=
ENST00000397797.1:c.289T= ENSP00000380899.1:p.Phe97=
ENST00000472694.1:n.521T=
NM_000558.4:c.385T= NP_000549.1:p.Phe129=
NM_000558.5:c.385T= MANE Select NP_000549.1:p.Phe129=