Canonical Allele Identifier: CA2630739967
Gene: HBA1 HGNC NCBI

Linked Data

gnomAD v4: 16-177153-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177153C>A , CM000678.2:g.177153C>A GRCh38
NC_000016.9:g.227152C>A , CM000678.1:g.227152C>A GRCh37
NC_000016.8:g.167152C>A NCBI36
NG_000006.1:g.38016C>A
NG_059186.1:g.5503C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.300+20C>A MANE Select ENSP00000322421.5:n.300+20C>A
ENST00000397797.1:c.204+20C>A ENSP00000380899.1:n.204+20C>A
ENST00000472694.1:n.436+20C>A
ENST00000487791.1:n.289C>A
NM_000558.4:c.300+20C>A NP_000549.1:n.300+20C>A
NM_000558.5:c.300+20C>A MANE Select NP_000549.1:n.300+20C>A
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