Canonical Allele Identifier: CA2200883022
Gene: HBA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176996C= , CM000678.2:g.176996C= GRCh38
NC_000016.9:g.226995C= , CM000678.1:g.226995C= GRCh37
NC_000016.8:g.166995C= NCBI36
NG_000006.1:g.37859C=
NG_059186.1:g.5346C=

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.163C= MANE Select ENSP00000322421.5:p.Gln55=
ENST00000397797.1:c.67C= ENSP00000380899.1:p.Gln23=
ENST00000472694.1:n.299C=
ENST00000487791.1:n.132C=
NM_000558.4:c.163C= NP_000549.1:p.Gln55=
NM_000558.5:c.163C= MANE Select NP_000549.1:p.Gln55=