Canonical Allele Identifier: CA2630739462
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-176894-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176894C>A , CM000678.2:g.176894C>A GRCh38
NC_000016.9:g.226893C>A , CM000678.1:g.226893C>A GRCh37
NC_000016.8:g.166893C>A NCBI36
NG_000006.1:g.37757C>A
NG_059186.1:g.5244C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.96-35C>A MANE Select ENSP00000322421.5:n.96-35C>A
ENST00000397797.1:c.-1-35C>A ENSP00000380899.1:n.-1-35C>A
ENST00000472694.1:n.197C>A
ENST00000487791.1:n.65-35C>A
NM_000558.4:c.96-35C>A NP_000549.1:n.96-35C>A
NM_000558.5:c.96-35C>A MANE Select NP_000549.1:n.96-35C>A