Canonical Allele Identifier: CA2200882820
Gene: HBA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176737C= , CM000678.2:g.176737C= GRCh38
NC_000016.9:g.226736C= , CM000678.1:g.226736C= GRCh37
NC_000016.8:g.166736C= NCBI36
NG_000006.1:g.37600C=
NG_059186.1:g.5087C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.21C= MANE Select ENSP00000322421.5:p.Asp7=
ENST00000397797.1:c.-27C= ENSP00000380899.1:n.-27C=
ENST00000472694.1:n.40C=
NM_000558.4:c.21C= NP_000549.1:p.Asp7=
NM_000558.5:c.21C= MANE Select NP_000549.1:p.Asp7=