Canonical Allele Identifier: CA393995882
Gene: HBA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177328G>A , CM000678.2:g.177328G>A GRCh38
NC_000016.9:g.227327G>A , CM000678.1:g.227327G>A GRCh37
NC_000016.8:g.167327G>A NCBI36
NG_000006.1:g.38191G>A
NG_059186.1:g.5678G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.346G>A MANE Select ENSP00000322421.5:p.Ala116Thr
ENST00000397797.1:c.250G>A ENSP00000380899.1:p.Ala84Thr
ENST00000472694.1:n.482G>A
NM_000558.4:c.346G>A NP_000549.1:p.Ala116Thr
NM_000558.5:c.346G>A MANE Select NP_000549.1:p.Ala116Thr