Canonical Allele Identifier: CA125789
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15763
ClinVar RCV Id: RCV000017074
dbSNP Id: rs35628685

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176775C>A , CM000678.2:g.176775C>A GRCh38
NC_000016.9:g.226774C>A , CM000678.1:g.226774C>A GRCh37
NC_000016.8:g.166774C>A NCBI36
NG_000006.1:g.37638C>A
NG_059186.1:g.5125C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.59C>A MANE Select ENSP00000322421.5:p.Ala20Glu
ENST00000397797.1:c.-2+13C>A ENSP00000380899.1:n.-2+13C>A
ENST00000472694.1:n.78C>A
ENST00000487791.1:n.28C>A
NM_000558.4:c.59C>A NP_000549.1:p.Ala20Glu
NM_000558.5:c.59C>A MANE Select NP_000549.1:p.Ala20Glu