Canonical Allele Identifier: CA492994478
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.227380G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177381G>A , CM000678.2:g.177381G>A GRCh38
NC_000016.9:g.227380G>A , CM000678.1:g.227380G>A GRCh37
NC_000016.8:g.167380G>A NCBI36
NG_000006.1:g.38244G>A
NG_059186.1:g.5731G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.399G>A MANE Select ENSP00000322421.5:p.Val133=
ENST00000397797.1:c.303G>A ENSP00000380899.1:p.Val101=
ENST00000472694.1:n.535G>A
NM_000558.4:c.399G>A NP_000549.1:p.Val133=
NM_000558.5:c.399G>A MANE Select NP_000549.1:p.Val133=