Canonical Allele Identifier: CA393995879
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-177326-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177326C>A , CM000678.2:g.177326C>A GRCh38
NC_000016.9:g.227325C>A , CM000678.1:g.227325C>A GRCh37
NC_000016.8:g.167325C>A NCBI36
NG_000006.1:g.38189C>A
NG_059186.1:g.5676C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.344C>A MANE Select ENSP00000322421.5:p.Pro115His
ENST00000397797.1:c.248C>A ENSP00000380899.1:p.Pro83His
ENST00000472694.1:n.480C>A
NM_000558.4:c.344C>A NP_000549.1:p.Pro115His
NM_000558.5:c.344C>A MANE Select NP_000549.1:p.Pro115His