Canonical Allele Identifier: CA393995130
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.226981G>A (hg19) chr16:g.176982G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176982G>A , CM000678.2:g.176982G>A GRCh38
NC_000016.9:g.226981G>A , CM000678.1:g.226981G>A GRCh37
NC_000016.8:g.166981G>A NCBI36
NG_000006.1:g.37845G>A
NG_059186.1:g.5332G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.149G>A MANE Select ENSP00000322421.5:p.Ser50Asn
ENST00000397797.1:c.53G>A ENSP00000380899.1:p.Ser18Asn
ENST00000472694.1:n.285G>A
ENST00000487791.1:n.118G>A
NM_000558.4:c.149G>A NP_000549.1:p.Ser50Asn
NM_000558.5:c.149G>A MANE Select NP_000549.1:p.Ser50Asn
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