Canonical Allele Identifier: CA393995129
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-176982-G-C
MyVariant Identifiers: chr16:g.226981G>C (hg19) chr16:g.176982G>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.149G>C MANE Select ENSP00000322421.5:p.Ser50Thr
ENST00000397797.1:c.53G>C ENSP00000380899.1:p.Ser18Thr
ENST00000472694.1:n.285G>C
ENST00000487791.1:n.118G>C
NM_000558.4:c.149G>C NP_000549.1:p.Ser50Thr
NM_000558.5:c.149G>C MANE Select NP_000549.1:p.Ser50Thr
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