Canonical Allele Identifier: CA125793
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.176733C>A
GRCh37 chr16:g.226732C>A
Revel Score:
ENST00000320868 (MANE Select) 0.544
gnomAD v2:
16:226732 C / A
gnomAD v3:
16:176733 C / A
gnomAD v4:
chr16-176733-C-A
Joint Max Group AF 0.00000695 (NFE)
Exomes Max Group AF 0.00000738 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176733C>A , CM000678.2:g.176733C>A GRCh38
NC_000016.9:g.226732C>A , CM000678.1:g.226732C>A GRCh37
NC_000016.8:g.166732C>A NCBI36
NG_000006.1:g.37596C>A
NG_059186.1:g.5083C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.17C>A MANE Select ENSP00000322421.5:p.Ala6Asp
ENST00000397797.1:c.-31C>A ENSP00000380899.1:n.-31C>A
ENST00000472694.1:n.36C>A
NM_000558.4:c.17C>A NP_000549.1:p.Ala6Asp
NM_000558.5:c.17C>A MANE Select NP_000549.1:p.Ala6Asp
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