Canonical Allele Identifier: CA393996029
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.227397C>A (hg19) chr16:g.177398C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177398C>A , CM000678.2:g.177398C>A GRCh38
NC_000016.9:g.227397C>A , CM000678.1:g.227397C>A GRCh37
NC_000016.8:g.167397C>A NCBI36
NG_000006.1:g.38261C>A
NG_059186.1:g.5748C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.416C>A MANE Select ENSP00000322421.5:p.Ser139Tyr
ENST00000397797.1:c.320C>A ENSP00000380899.1:p.Ser107Tyr
ENST00000472694.1:n.552C>A
NM_000558.4:c.416C>A NP_000549.1:p.Ser139Tyr
NM_000558.5:c.416C>A MANE Select NP_000549.1:p.Ser139Tyr
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