Canonical Allele Identifier: CA492994731
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-177124-C-A
MyVariant Identifiers: chr16:g.227123C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177124C>A , CM000678.2:g.177124C>A GRCh38
NC_000016.9:g.227123C>A , CM000678.1:g.227123C>A GRCh37
NC_000016.8:g.167123C>A NCBI36
NG_000006.1:g.37987C>A
NG_059186.1:g.5474C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.291C>A MANE Select ENSP00000322421.5:p.Val97=
ENST00000397797.1:c.195C>A ENSP00000380899.1:p.Val65=
ENST00000472694.1:n.427C>A
ENST00000487791.1:n.260C>A
NM_000558.4:c.291C>A NP_000549.1:p.Val97=
NM_000558.5:c.291C>A MANE Select NP_000549.1:p.Val97=