Canonical Allele Identifier: CA2200883294
Gene: HBA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177371T= , CM000678.2:g.177371T= GRCh38
NC_000016.9:g.227370T= , CM000678.1:g.227370T= GRCh37
NC_000016.8:g.167370T= NCBI36
NG_000006.1:g.38234T=
NG_059186.1:g.5721T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.389T= MANE Select ENSP00000322421.5:p.Leu130=
ENST00000397797.1:c.293T= ENSP00000380899.1:p.Leu98=
ENST00000472694.1:n.525T=
NM_000558.4:c.389T= NP_000549.1:p.Leu130=
NM_000558.5:c.389T= MANE Select NP_000549.1:p.Leu130=