Canonical Allele Identifier: CA393995144
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-176991-C-A
MyVariant Identifiers: chr16:g.226990C>A (hg19) chr16:g.176991C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176991C>A , CM000678.2:g.176991C>A GRCh38
NC_000016.9:g.226990C>A , CM000678.1:g.226990C>A GRCh37
NC_000016.8:g.166990C>A NCBI36
NG_000006.1:g.37854C>A
NG_059186.1:g.5341C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.158C>A MANE Select ENSP00000322421.5:p.Ser53Tyr
ENST00000397797.1:c.62C>A ENSP00000380899.1:p.Ser21Tyr
ENST00000472694.1:n.294C>A
ENST00000487791.1:n.127C>A
NM_000558.4:c.158C>A NP_000549.1:p.Ser53Tyr
NM_000558.5:c.158C>A MANE Select NP_000549.1:p.Ser53Tyr
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