Canonical Allele Identifier: CA393994973
Gene: HBA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176774G>A , CM000678.2:g.176774G>A GRCh38
NC_000016.9:g.226773G>A , CM000678.1:g.226773G>A GRCh37
NC_000016.8:g.166773G>A NCBI36
NG_000006.1:g.37637G>A
NG_059186.1:g.5124G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.58G>A MANE Select ENSP00000322421.5:p.Ala20Thr
ENST00000397797.1:c.-2+12G>A ENSP00000380899.1:n.-2+12G>A
ENST00000472694.1:n.77G>A
ENST00000487791.1:n.27G>A
NM_000558.4:c.58G>A NP_000549.1:p.Ala20Thr
NM_000558.5:c.58G>A MANE Select NP_000549.1:p.Ala20Thr