Canonical Allele Identifier: CA492994406
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-177327-C-A
MyVariant Identifiers: chr16:g.227326C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177327C>A , CM000678.2:g.177327C>A GRCh38
NC_000016.9:g.227326C>A , CM000678.1:g.227326C>A GRCh37
NC_000016.8:g.167326C>A NCBI36
NG_000006.1:g.38190C>A
NG_059186.1:g.5677C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.345C>A MANE Select ENSP00000322421.5:p.Pro115=
ENST00000397797.1:c.249C>A ENSP00000380899.1:p.Pro83=
ENST00000472694.1:n.481C>A
NM_000558.4:c.345C>A NP_000549.1:p.Pro115=
NM_000558.5:c.345C>A MANE Select NP_000549.1:p.Pro115=