Canonical Allele Identifier: CA492994513
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.227000T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177001T>A , CM000678.2:g.177001T>A GRCh38
NC_000016.9:g.227000T>A , CM000678.1:g.227000T>A GRCh37
NC_000016.8:g.167000T>A NCBI36
NG_000006.1:g.37864T>A
NG_059186.1:g.5351T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.168T>A MANE Select ENSP00000322421.5:p.Val56=
ENST00000397797.1:c.72T>A ENSP00000380899.1:p.Val24=
ENST00000472694.1:n.304T>A
ENST00000487791.1:n.137T>A
NM_000558.4:c.168T>A NP_000549.1:p.Val56=
NM_000558.5:c.168T>A MANE Select NP_000549.1:p.Val56=
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